A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664594



Internal ID9930699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203918542..203920763hg38UCSC Ensembl
chr1:203887670..203889891hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382222
hg192222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv90e199
Supporting Variantsessv5984439, essv5501843, essv5687719, essv5445479, essv5428462, essv5513109, essv6409546, essv5987182, essv6091636, essv6321572, essv6263744, essv5474532, essv5591919, essv5987940, essv6128078, essv6424353, essv5454832, essv6441994, essv6040880, essv5900685, essv5744031, essv5464737, essv5807126, essv5986779, essv6524308, essv6530372, essv5685307, essv5713929, essv5417823, essv6068488, essv5577037, essv6122180, essv5574788, essv6038977, essv6364685, essv6135596, essv5502680, essv5468522, essv6560876, essv5533320, essv6033462, essv6194676, essv5965516, essv6265487, essv6313783, essv5708070, essv6029925, essv6472180
SamplesNA19701, NA18924, NA19466, NA19399, NA19914, NA20816, NA19355, NA20332, NA19107, NA18489, NA19678, NA18923, HG00736, NA19130, HG01069, NA19372, NA19235, NA19385, NA19172, NA18908, NA19985, NA19921, NA19908, NA19707, HG01095, NA18871, NA18907, NA18856, HG01497, NA19099, NA19257, NA18909, NA19147, NA19434, NA19334, NA19439, NA20281, NA19360, NA19376, NA19472, NA19474, NA19102, NA18873, NA19711, NA19316, NA18522, HG01191, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664594
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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