A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12410826



Internal ID1039156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69668202..69669259hg38UCSC Ensembl
Innerchr6:69668202..69669259hg38UCSC Ensembl
Outerchr6:69667916..69669525hg38UCSC Ensembl
chr6:70378094..70379151hg19UCSC Ensembl
Innerchr6:70378094..70379151hg19UCSC Ensembl
Outerchr6:70377808..70379417hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381058
hg191058
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609419
Supporting Variants
SamplesHG00657
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12410826
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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