A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608878



Internal ID6995802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46187314..46191451hg38UCSC Ensembl
Innerchr6:46187314..46191451hg38UCSC Ensembl
Outerchr6:46187108..46191783hg38UCSC Ensembl
chr6:46155051..46159188hg19UCSC Ensembl
Innerchr6:46155051..46159188hg19UCSC Ensembl
Outerchr6:46154845..46159520hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384138
hg194138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12339782, essv12339787, essv12339784, essv12339786, essv12339789, essv12339781, essv12339788, essv12339780, essv12339785, essv12339790, essv12339779, essv12339791, essv12339783
SamplesHG03559, HG02890, HG02852, HG02891, NA20355, HG01312, HG02570, HG03061, NA20299, HG03382, HG02799, HG02759, NA20334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608878
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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