A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609401



Internal ID6996322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69084735..69087731hg38UCSC Ensembl
Innerchr6:69084745..69087721hg38UCSC Ensembl
Outerchr6:69084725..69087741hg38UCSC Ensembl
chr6:69794627..69797623hg19UCSC Ensembl
Innerchr6:69794637..69797613hg19UCSC Ensembl
Outerchr6:69794617..69797633hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg382997
hg192997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12408789, essv12408787, essv12408788
SamplesHG01412, HG01190, HG01086
Known GenesBAI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609401
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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