A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608291



Internal ID6995221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20259613..20262670hg38UCSC Ensembl
Innerchr6:20259628..20262655hg38UCSC Ensembl
Outerchr6:20259598..20262685hg38UCSC Ensembl
chr6:20259844..20262901hg19UCSC Ensembl
Innerchr6:20259859..20262886hg19UCSC Ensembl
Outerchr6:20259829..20262916hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383058
hg193058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12216030, essv12216031
SamplesHG00599, NA18960
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608291
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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