A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672397



Internal ID9591816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2263830..2270749hg38UCSC Ensembl
chr3:2305514..2312433hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg386920
hg196920
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672397
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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