A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672578



Internal ID9938683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1664580..1666986hg38UCSC Ensembl
Outerchr7:1664209..1667356hg38UCSC Ensembl
Innerchr7:1704216..1706622hg19UCSC Ensembl
Outerchr7:1703845..1706992hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1178e199
Supporting Variantsessv6448607, essv5958386, essv5984390, essv5674865, essv5710240, essv6347480, essv5794154, essv5708799, essv6382255, essv5690410, essv5458347, essv5883278, essv6046751, essv6463603, essv6418517, essv6101170, essv6154006, essv6006765, essv5558567, essv6561024, essv6438476, essv5941686, essv5982334, essv5421376, essv6159180, essv5407796, essv6574906, essv5800731, essv5719813, essv6090633, essv5712029, essv5737176, essv5553042, essv6183530, essv6309684, essv5979983, essv6210546, essv5720093, essv5403094, essv5517646, essv6383403, essv5590540, essv5892722, essv5772797, essv5555015, essv5664401, essv5969628, essv6526647, essv5424406, essv6589259, essv5810728, essv5931679, essv5873889, essv6016726, essv6070188, essv6545063, essv5564061, essv5785292, essv5500263, essv5526184, essv5778890, essv6532247, essv5787199, essv6323967, essv5505892, essv5660059, essv5837180, essv6275778, essv5953921
SamplesNA18502, NA19204, NA18861, NA18508, NA18507, NA18917, NA18486, NA18504, NA19190, NA19098, NA18870, NA18510, NA19107, NA19171, NA18519, NA18489, NA19119, NA18923, NA19198, NA19131, NA18916, NA19138, NA18498, NA19130, NA18874, NA18868, NA19137, NA19235, NA19207, NA19172, NA19159, NA19189, NA18520, NA19209, NA18908, NA18867, NA19200, NA19247, NA18934, NA19152, NA19236, NA18516, NA18910, NA18871, NA18907, NA19114, NA18499, NA18856, NA18912, NA18853, NA19099, NA19257, NA18523, NA19160, NA18858, NA18909, NA19108, NA19256, NA18501, NA19248, NA19093, NA19102, NA18873, NA19116, NA19213, NA19129, NA18511, NA18522, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672578
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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