Variant Details

Variant: esv2677068

Internal ID

9596487

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr17:68552650..68552980	hg38	UCSC Ensembl
	chr17:66548791..66549121	hg19	UCSC Ensembl

Cytoband

17q24.2

Allele length

Assembly	Allele length
hg38	331
hg19	331

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6596063, essv6114961, essv5864007, essv6516268, essv5495746, essv6124169, essv6516105, essv6369308, essv6508445, essv6142360, essv6299273, essv5500906, essv5900515, essv6125736, essv5413120, essv6087348, essv5970464, essv6585603, essv5882857, essv5819033, essv5868141, essv5833294, essv6536908, essv5588907, essv5620266, essv6135056, essv5718068, essv5694170, essv6509049, essv5936563, essv5984341, essv6072460, essv6094039, essv6531575, essv5894630, essv6116177, essv5811489, essv6086074, essv5912358, essv6228503, essv6388216, essv6471571, essv6177478, essv6038872, essv5507504, essv5778711, essv5417434, essv6152373, essv5973876, essv5512241, essv6284137, essv5569112, essv5421419, essv6068734, essv5615494, essv6065552, essv6157972, essv5796508, essv5687897, essv5603010, essv5495383, essv6579281, essv6174455, essv6382720, essv6363930, essv6368072, essv5870191, essv5648112, essv6362167, essv5677985, essv5930369, essv6145862, essv6217041, essv5796100, essv5717398, essv6386287, essv6111658, essv6466589, essv5563741, essv6055006, essv6072496, essv6533980, essv6520062, essv6106557, essv6321215, essv6434233, essv5716524, essv6397560, essv5895193, essv6414797, essv5898062, essv6095083, essv5482697, essv5437168, essv5917634, essv6365748, essv5588344, essv6374393, essv5551282, essv5754887, essv5733339, essv5539154, essv6463267, essv5695548, essv6556149, essv5444926, essv6541742, essv6131538, essv5924340, essv5513136, essv6208189, essv5885138, essv6119276, essv5557509, essv5703114, essv6242946, essv6366810, essv5588711, essv5525499, essv5603264, essv5499607, essv5454173, essv5611225, essv5474111, essv5873167, essv6532606, essv5540582, essv6461294, essv6099640, essv5747327, essv6375899, essv5603401, essv5513920, essv6549379, essv5829415, essv6347268, essv5641153, essv5809312, essv5547192, essv5646675, essv6060575, essv5963718, essv6383937, essv6352218, essv5669643, essv6412486, essv5916475, essv6433687, essv5501628, essv6501998, essv6242255, essv6349077, essv5441925, essv5935802, essv6128284, essv5616805, essv5978438, essv5406191, essv6553322, essv5724956, essv5816898, essv5798107, essv5593381, essv5895606, essv6319689, essv6037010, essv6234018, essv6547272, essv6226860, essv6007672, essv5696291, essv6324577, essv6160408, essv5803881, essv6363500, essv5965122, essv6024696, essv5981104, essv5623850, essv5710952, essv6488066, essv5708720, essv5439080

Samples

HG00323, HG00613, HG00313, NA12043, NA12489, HG01359, NA12249, NA19436, HG00318, HG00607, NA07347, NA12750, NA18520, NA19904, NA20522, NA18534, NA20503, HG00344, NA18530, HG01072, HG00328, NA18952, HG00171, HG01083, HG00274, HG00596, NA19093, NA20544, HG00160, HG00310, NA18570, NA19003, HG01389, HG01197, NA18516, HG00614, HG00577, NA20808, HG00428, NA19010, HG00375, HG00542, NA19782, HG00270, NA19461, NA20539, NA20805, HG00334, HG01204, NA07051, NA19651, HG00280, HG00331, HG00319, HG00699, NA20755, NA19147, NA19776, HG01133, NA18632, NA20770, NA19077, HG00154, HG00339, NA19067, HG00346, HG01384, HG00179, NA19076, NA20819, HG00472, HG01375, HG00583, NA12004, NA18576, HG00180, NA18618, NA19443, HG00231, NA18990, NA20807, NA18592, HG00628, NA12273, HG00330, NA12761, NA19398, NA19440, HG00338, NA18959, NA20541, HG00178, NA18547, HG00258, NA12829, NA20520, NA18916, HG00634, NA18982, HG00403, HG01187, NA19457, HG00357, NA19700, NA12144, HG00584, HG00159, NA19380, HG00108, NA18620, NA19189, HG00640, HG01066, NA19375, NA19393, HG00325, HG00185, NA20795, NA19102, NA06986, NA18522, HG00239, HG00273, HG01170, NA18504, NA20818, HG00478, NA18564, NA18858, HG00277, NA20828, NA18613, NA20542, NA20582, HG01070, NA19707, HG00246, NA18910, NA19382, HG00377, NA20813, NA19789, HG00589, NA18606, HG00151, NA18619, NA12890, NA20525, NA20756, NA18907, NA19391, HG01334, NA20799, NA06984, NA19394, NA18565, NA19009, NA19116, NA18560, NA19818, HG00654, NA19452, NA18548, NA12003, HG00281, NA12399, NA19717, NA20812, NA12842, HG01366, NA18610, NA20758, NA19070, NA18611, HG00251, HG00442, HG00137, NA19079, NA19381, HG01377, NA20517, HG00704, HG01198

Known Genes

FAM20A

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2677068

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	183
Observed Complex	0
Frequency	n/a