A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669703



Internal ID9935808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120442797..120446104hg38UCSC Ensembl
chr3:120161644..120164951hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383308
hg193308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5768356, essv6467763, essv5637289, essv5889953, essv6135167, essv5674331, essv5854105, essv5874032, essv5736024, essv5709739, essv6084434, essv6094756, essv5417656, essv6441236, essv5854247, essv6059147, essv5636309, essv5491799, essv6140590, essv6095130, essv5763040, essv6185599, essv5927582, essv5466558, essv5465340, essv6135551, essv6555872, essv6120167, essv5753131, essv6491654, essv5913080, essv6382906, essv6395859, essv6430389, essv5896070, essv6054673, essv6094118, essv6118277, essv6139258, essv5876954, essv5644066, essv6464744, essv5938076, essv6102158, essv5651192, essv6457007, essv6041778, essv5539275, essv6265713, essv6214808, essv5484574, essv6195352, essv6171631, essv6159145, essv5655735, essv5924794, essv5397042, essv5758933, essv5877120, essv5577404, essv5632852, essv5986233, essv5895259, essv5506493, essv5928232, essv6289577, essv6270367, essv6373627, essv5693592
SamplesNA18924, NA19204, NA19332, NA19359, NA19393, NA19377, NA19443, NA19190, NA19098, NA19107, NA19396, NA19171, NA18519, NA19319, NA18489, NA19448, NA19119, NA19198, NA19197, NA19457, NA19138, NA20336, NA20291, HG00158, NA19404, NA19137, NA19372, NA19238, NA19172, NA19471, NA19317, NA19159, NA19189, NA18520, NA19239, NA19209, NA19456, NA18908, NA18867, HG01136, NA19247, NA18933, NA19236, NA18516, NA18907, NA18856, NA18912, NA18523, NA19318, NA19160, NA19625, NA18858, NA19108, NA19444, NA19240, NA19360, HG01342, NA20341, NA19223, NA20334, NA19093, NA18873, NA19213, NA19900, NA18505, NA18488, NA19463, NA19346, NA19431
Known GenesFSTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669703
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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