A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12621119



Internal ID2622935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162313440..162323421hg38UCSC Ensembl
Innerchr6:162313440..162323421hg38UCSC Ensembl
Outerchr6:162313336..162323483hg38UCSC Ensembl
chr6:162734472..162744453hg19UCSC Ensembl
Innerchr6:162734472..162744453hg19UCSC Ensembl
Outerchr6:162734368..162744515hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg389982
hg199982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611514
Supporting Variants
SamplesHG00479
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12621119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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