A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2672397

Internal ID9591816
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2263830..2270749hg38UCSC Ensembl
chr3:2305514..2312433hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5833714, essv6509992, essv5659722, essv5803083, essv6594846, essv5407036, essv6473170, essv5774749, essv5816377, essv6298776, essv6301236, essv5470355, essv6550444, essv5932416, essv6040614, essv5661132, essv6214540, essv5570668, essv6203558, essv6054927, essv5981969, essv5784982, essv6188910, essv5869582, essv5600849, essv5553191, essv6015733, essv6133661, essv5752563, essv6075716, essv5882354, essv6017003, essv6364004, essv6042571, essv6472557, essv5540506, essv5668363, essv5632302, essv6043530, essv6078869, essv6439204, essv6337383, essv6340361, essv6564940, essv6347775, essv5396747, essv6275616, essv5976637, essv6489426, essv6350875, essv6576064, essv5454224, essv5651743, essv6035921, essv6524435, essv6290660, essv6455030, essv6549105, essv5485057, essv5937471, essv6569594, essv6241534, essv5496247, essv6403395, essv5602200, essv6525284, essv6024876, essv5977322
SamplesHG00157, HG00313, NA07347, NA12748, NA20809, HG01250, NA11920, NA18612, HG00731, HG00131, NA19783, HG00160, NA06989, HG01389, HG00117, NA20786, HG00139, NA20805, NA19648, HG01133, HG01550, NA20811, NA18536, NA18623, HG00372, NA19908, NA11933, NA20765, NA11843, NA12829, HG00264, NA19679, HG00276, HG01187, NA12777, HG00357, NA19684, HG00133, HG00124, HG01097, HG00108, HG01516, NA20536, NA20753, NA20540, NA20814, HG00249, HG00277, NA20774, HG01351, NA20815, HG00236, HG01149, HG00151, HG01094, NA20581, NA19729, NA20799, NA06984, HG00138, HG00262, HG00118, NA19064, HG01177, HG00320, HG01498, NA19473, HG00126
Known GenesCNTN4
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2672397
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0

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