A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608833



Internal ID6995757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44543805..44548009hg38UCSC Ensembl
Innerchr6:44543807..44548008hg38UCSC Ensembl
Outerchr6:44543804..44548011hg38UCSC Ensembl
chr6:44511542..44515746hg19UCSC Ensembl
Innerchr6:44511544..44515745hg19UCSC Ensembl
Outerchr6:44511541..44515748hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384205
hg194205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12333270, essv12333268, essv12333254, essv12333267, essv12333253, essv12333258, essv12333259, essv12333269, essv12333250, essv12333251, essv12333255, essv12333265, essv12333247, essv12333260, essv12333256, essv12333266, essv12333248, essv12333272, essv12333264, essv12333257, essv12333263, essv12333262, essv12333273, essv12333271, essv12333252, essv12333249, essv12333261
SamplesNA18924, HG00306, HG02624, HG03193, HG00272, NA19119, NA18874, NA19239, NA18864, HG02819, HG02570, NA19184, HG03291, NA19327, HG02555, HG02577, HG02881, NA20765, NA18909, HG02546, NA19835, HG02982, HG03103, HG02053, NA19116, HG03198, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608833
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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