A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672615



Internal ID9938720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223608382..223608616hg38UCSC Ensembl
chr2:224473100..224473334hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5617161, essv6475178, essv5978807, essv5950191, essv6485360, essv5815614, essv6462888, essv5963543, essv6140399, essv5936666, essv5866283, essv6432186, essv5830611, essv5836025, essv6044863, essv6075127, essv5679693, essv5584425, essv5845406, essv6110314, essv5465554, essv6407409, essv5589230, essv5564789, essv6118689, essv6215872, essv5474564, essv5621386, essv5972690, essv5448064, essv6380241, essv6550507, essv5525472, essv5402042, essv6555783, essv5687959, essv6521738, essv5818463, essv5530843, essv6402861, essv6413605, essv5596548, essv6323743, essv5619397, essv5959756, essv6174392, essv6375260, essv6397361, essv5961495, essv5478915, essv6515956, essv6491816, essv6581163, essv5613976, essv5831591, essv5833903, essv5672427, essv5792813, essv5438737, essv6389983, essv5746401, essv5744454, essv6244229, essv6480743, essv6035285, essv5741148, essv6334231, essv6450906, essv5578000, essv5398565, essv5666252, essv5458921
SamplesNA12717, NA11829, NA18861, HG01052, NA19332, NA18561, NA18917, NA12045, NA18486, NA19819, NA19393, NA12004, NA19377, NA19920, NA19446, NA18967, NA07346, NA19374, NA18563, NA19171, NA18550, NA19201, NA18489, NA19119, NA18547, NA19131, NA19457, NA18964, NA20278, NA19383, NA18868, NA19207, NA19317, HG01440, NA19159, NA18975, NA18951, NA19152, NA18956, NA19455, NA18579, NA18534, NA18981, NA18856, NA12892, NA19257, NA19225, NA18523, NA19160, NA19395, NA18858, NA18974, NA19003, NA18542, NA19108, NA19434, NA19749, NA19144, HG00607, HG01108, NA19360, NA12763, NA06994, NA18971, HG00421, NA12749, NA19093, NA19116, NA18972, NA19129, NA18968, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672615
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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