A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12619503



Internal ID2621319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161815923..161848932hg38UCSC Ensembl
Innerchr6:161815960..161848896hg38UCSC Ensembl
Outerchr6:161815887..161848969hg38UCSC Ensembl
chr6:162236955..162269964hg19UCSC Ensembl
Innerchr6:162236992..162269928hg19UCSC Ensembl
Outerchr6:162236919..162270001hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3833010
hg1933010
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611477
Supporting Variants
SamplesNA20754
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12619503
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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