Variant Details

Variant: esv2668915

Internal ID

9935020

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:95506934..95510940	hg38	UCSC Ensembl
Outer	chr9:95506563..95511310	hg38	UCSC Ensembl
Inner	chr9:98269216..98273222	hg19	UCSC Ensembl
Outer	chr9:98268845..98273592	hg19	UCSC Ensembl

Cytoband

9q22.32

Allele length

Assembly	Allele length
hg38	4748
hg19	4748

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5748917, essv5936001, essv6579471, essv6330785, essv5913115, essv6146290, essv5582343, essv5510720, essv5708275, essv6171289, essv5895136, essv5739073, essv6144822, essv5779836, essv5490736, essv6338975, essv6511117, essv6030537, essv6462446, essv6188535, essv6556238, essv6566917, essv6219509, essv5541769, essv5953202, essv6499562, essv5706401, essv6473614, essv5533906, essv6565557, essv6263541, essv6442888, essv5662175, essv5574173, essv6330714, essv5409891, essv5762372, essv5799342, essv5760805, essv6574272, essv5886316, essv5842910, essv6551321, essv5889143, essv5435808, essv6374496, essv5786946, essv6421318, essv6146617, essv6107060, essv6034474, essv5715615, essv5512286, essv6480032, essv6264414, essv5540702, essv6549286, essv5397872, essv5920875, essv6011121, essv6127523, essv5936960, essv5417883, essv6465476, essv6516782, essv5719534, essv5944400, essv6237708, essv5748355, essv6310760, essv6100777, essv5946446, essv5755982, essv6280910, essv6535455, essv6343129, essv6198104, essv5648587, essv6461206, essv6572052, essv5653825, essv5729827, essv5672985, essv5564108, essv6218866, essv5606261, essv6409644, essv6395820, essv5991020, essv5883824, essv6029281, essv6237697, essv5673945, essv6471732, essv6220320, essv5884127, essv6480079, essv5739794, essv6569944, essv6493765, essv6123383, essv6032716, essv5718951, essv5671016, essv6282559, essv6596188, essv6310028, essv5983231, essv5597714, essv5690258, essv6322589, essv6542762, essv6495287, essv5638929, essv6543002, essv5406771, essv6357407, essv6449194, essv5596031, essv6485055, essv5904849, essv5646649, essv6218547, essv6072215, essv6056819, essv6502814, essv5809523, essv6291738, essv5599527, essv5728488, essv5535563, essv6119062, essv6123664, essv5536074, essv6464385, essv6065161, essv5964478, essv5614894, essv5914369, essv6204641, essv6150059, essv6128131, essv5846021

Samples

HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00361, HG00524, HG00187, HG00315, HG00306, HG00367, HG00318, HG00181, HG00699, HG00179, HG00449, HG00654, HG00693, HG00337, HG00327, HG00271, HG00663, HG00589, HG00272, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00346, HG00270, HG00185, HG00537, HG00311, HG00590, HG00512, HG00281, HG00277, HG00683, HG00335, HG00325, HG00534, HG00422, HG00705, HG00309, HG00182, HG00427, HG00338, HG00326, HG00178, HG00323, HG00530, HG00419, HG00464, HG00543, HG00188, HG00629, HG00443, HG00268, HG00266, HG00176, HG00282, HG00596, HG00557, HG00328, HG00428, HG00653, HG00701, HG00657, HG00475, HG00368, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, HG00500, HG00275, HG00619, HG00708, HG00692, HG00635, HG00324, HG00284, HG00273, HG00651, HG00690, HG00404, HG00373, HG00531, HG00479, HG00684, HG00525, HG00321, HG00276, HG00704, HG00611, HG00476, HG00336, HG00285, HG00625, HG00366, HG00353, HG00580, HG00375, HG00357, HG00278, HG00473, HG00607, HG00319, HG00662, HG00418, HG00620, HG00339, HG00269, HG00707, HG00672, HG00614, HG00513, HG00578, HG00312, HG00421, HG00329, HG00342, HG00310, HG00186, HG00698, HG00280, HG00343, HG00377, HG00372, HG00595, HG00472, HG00628, HG00171, HG00345, HG00437

Known Genes

PTCH1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

High quality site

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2668915

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	143
Observed Complex	0
Frequency	n/a