A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12620695



Internal ID2622511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162195050..162206991hg38UCSC Ensembl
chr6:162616082..162628023hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3811942
hg1911942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611497
Supporting Variants
SamplesHG03717
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12620695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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