A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609269



Internal ID6996191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63815371..63818691hg38UCSC Ensembl
Innerchr6:63815390..63818672hg38UCSC Ensembl
Outerchr6:63815352..63818710hg38UCSC Ensembl
chr6:64525264..64528584hg19UCSC Ensembl
Innerchr6:64525283..64528565hg19UCSC Ensembl
Outerchr6:64525245..64528603hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12389918
SamplesHG02819
Known GenesEYS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609269
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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