A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678177



Internal ID9944282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222200974..222207680hg38UCSC Ensembl
Outerchr1:222200603..222208050hg38UCSC Ensembl
Innerchr1:222374316..222381022hg19UCSC Ensembl
Outerchr1:222373945..222381392hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387448
hg197448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99e199
Supporting Variantsessv5668972, essv5911509, essv6492109, essv6163082, essv6003748, essv6597048, essv5440343, essv5591984, essv5630037, essv5433275, essv5987164, essv6571125, essv6204314, essv5781525, essv5585252, essv6009443, essv5507952, essv5607551, essv6156287, essv6271837, essv6182528, essv5710611, essv6077637, essv6062070, essv6000733, essv6274635, essv6172774, essv6187743, essv6433068, essv6464846, essv6403910, essv5677904, essv5954820, essv5734905
SamplesNA18502, NA19204, NA18861, NA18508, NA18917, NA18486, NA18504, NA19190, NA19107, NA18923, NA18916, NA19197, NA18498, NA18868, NA19207, NA19159, NA18520, NA19209, NA19200, NA19247, NA18934, NA19236, NA18516, NA18871, NA18907, NA18856, NA18912, NA19257, NA18858, NA18909, NA19116, NA19129, NA18511, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678177
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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