A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12617795



Internal ID2619611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161567774..162085535hg38UCSC Ensembl
Innerchr6:161567924..162085385hg38UCSC Ensembl
Outerchr6:161567624..162085685hg38UCSC Ensembl
chr6:161988806..162506567hg19UCSC Ensembl
Innerchr6:161988956..162506417hg19UCSC Ensembl
Outerchr6:161988656..162506717hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38517762
hg19517762
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611465
Supporting Variants
SamplesHG00280
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12617795
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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