A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672090



Internal ID9938195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7944971..7945439hg38UCSC Ensembl
chr19:8009856..8010324hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5777539, essv5576153, essv5754252, essv6080995, essv6229421, essv5651791, essv5546395, essv6324982, essv5596795, essv6476802, essv6149049, essv6064387, essv6405359, essv6133826, essv6573593, essv6416443, essv6505603, essv6276581, essv6447211, essv5916106, essv6554137, essv6329577, essv5755907, essv5810319, essv5879160, essv5521628, essv6262205, essv5736922, essv6334601, essv6574022, essv6330706, essv5675745, essv6583581, essv6011958, essv5591012, essv5705577, essv5810895, essv5956432, essv5632159, essv5463053, essv5579419, essv6462114, essv5832867, essv6137653, essv5472104, essv6472412
SamplesHG01462, NA19909, NA19819, HG01051, NA20356, NA19138, NA18498, NA20336, NA19904, NA18874, HG01170, NA18868, NA19137, NA20340, NA19372, NA19235, NA19317, NA20127, NA18908, NA19908, NA19437, NA19462, NA18933, NA19663, HG01073, NA19225, NA18858, HG01204, NA19375, NA19834, NA19712, NA19444, HG01174, NA19835, NA19311, HG01342, NA19818, NA19376, NA19248, NA19713, NA19430, NA18505, NA19129, NA19316, NA18511, HG00554
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672090
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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