Variant Details

Variant: esv2661542

Internal ID

9580961

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:233722831..233725340	hg38	UCSC Ensembl
	chr2:234631477..234633986	hg19	UCSC Ensembl

Cytoband

2q37.1

Allele length

Assembly	Allele length
hg38	2510
hg19	2510

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6213751, essv5679389, essv6258711, essv5713732, essv5634216, essv6386014, essv6017947, essv5506870, essv6080449, essv5991189, essv5588969, essv5631097, essv5523891, essv6396836, essv6132475, essv6065581, essv5799885, essv6586200, essv5947275, essv5439858, essv6152541, essv6556695, essv5945012, essv6355581, essv5966002, essv6184419, essv5555460, essv6179801, essv6463514, essv6066675, essv6360708, essv6401611, essv5511250, essv5889055, essv5473712, essv6216759, essv5649695, essv6055304, essv6493388, essv6492199, essv6252313, essv5696514, essv6350884, essv6489217, essv5451992, essv5457345, essv6365640, essv6108687, essv6219926, essv6146431, essv5596805, essv5656866, essv6207014, essv5709747, essv6373678, essv5986493, essv6163075, essv5725564, essv5649251, essv6034292, essv5964634, essv6467940, essv5640615, essv5803814, essv5749758, essv6515310, essv6450822, essv6012916, essv5749405, essv5778044, essv5521920, essv6148166, essv5461645, essv6008440, essv6049719, essv5817989, essv5684085, essv5872013, essv5856532, essv5908838, essv6469728, essv5592805, essv5827214, essv6379019, essv5792502, essv6284905, essv5822113, essv6520030, essv6465699, essv6241690, essv5425429, essv5409606, essv6353020, essv5876924, essv5437986, essv5912474, essv5575818, essv5695697, essv5590837, essv6006433, essv5974687, essv6189979, essv5448931, essv5783869, essv6394210, essv6047305, essv6475711, essv6152668, essv5672213, essv5888616, essv5939017, essv6194911, essv5759811, essv5440430, essv6393510, essv6372580, essv6027018, essv5853754, essv5404957, essv6133868, essv6062451, essv6321691, essv6024621, essv6142644, essv5797156, essv6005622, essv6047598, essv6417580, essv6100655, essv6490031, essv6036049, essv5870884, essv5657061, essv6540699, essv5687865, essv6356235, essv6095203, essv5870587, essv5750675, essv5908730, essv5928219, essv5603074, essv5920863, essv6222932, essv5495145, essv5698311, essv5638689, essv6493385, essv6494964, essv6537629, essv5472996, essv6060049, essv6111169, essv5783628, essv6405310, essv6237954, essv6349003, essv5588672, essv5767445, essv5792836, essv5968662, essv5785817, essv6205904, essv5619844, essv5470515, essv6109663, essv5485091, essv6553955, essv5787156, essv5966730, essv6014026, essv5609492, essv5435579, essv6200732, essv6200521, essv6376733, essv6528500, essv6377528, essv6017376, essv5482960, essv6280926

Samples

HG00613, HG01441, NA12043, NA19152, NA12249, NA07347, HG00257, NA18595, NA18616, NA20809, NA18630, HG00418, NA20785, NA18561, NA18952, HG01083, NA20510, HG00274, HG00245, HG00464, HG00596, NA18526, HG00736, NA11918, NA19072, HG00707, NA18948, HG00463, NA18516, HG00577, NA18972, HG01488, NA12828, NA18517, HG00428, NA18947, NA19010, HG00542, NA18542, HG00270, NA19461, NA19144, HG00701, HG00698, NA20588, NA18963, HG00651, NA19257, NA19682, HG00146, NA18488, NA19474, NA20798, HG00319, HG00737, NA19084, HG00699, NA18943, NA19776, HG01521, HG00592, HG00635, NA19077, HG00543, HG00154, HG01107, NA18559, NA19914, NA20761, NA18912, NA20533, HG01384, NA18627, HG00593, HG00472, NA19390, HG00421, HG00583, NA18566, NA19068, NA18622, NA18960, NA18618, NA07357, HG00610, NA20801, NA20754, HG00628, NA18959, HG00533, HG00258, NA18637, NA19835, NA11995, HG00634, HG00637, NA18593, HG00403, NA19700, NA12751, NA19000, NA19213, NA19676, NA20769, HG01437, NA19080, NA19153, NA12892, NA18633, HG00653, NA12778, HG00629, NA18486, NA19102, NA19238, NA19005, NA18502, NA18558, HG00672, HG01069, NA18504, HG00249, HG00478, NA18564, NA18858, NA18961, HG01080, NA18613, HG00513, HG00524, HG00512, HG00525, NA19131, NA18974, NA19789, NA18543, HG00151, NA18987, NA20581, HG00427, HG00590, HG00595, NA18552, NA20534, NA18983, HG00443, NA18599, HG00611, HG00650, NA06984, NA18565, NA18631, HG00580, NA19719, NA19747, HG00448, NA18602, HG00654, HG00530, NA11830, NA19064, NA19225, NA11993, NA12399, HG00422, NA18610, NA20758, NA19171, HG00625, NA18549, HG00442, NA18981, NA18908, NA20804, NA06994, HG00476, HG00704, NA19385, NA19779, HG00531, NA18553

Known Genes

UGT1A10, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2661542

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	181
Observed Complex	0
Frequency	n/a