A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665343



Internal ID9931448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:36462874..36467488hg38UCSC Ensembl
Outerchr6:36462837..36467538hg38UCSC Ensembl
Innerchr6:36430651..36435265hg19UCSC Ensembl
Outerchr6:36430614..36435315hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6577785
SamplesNA19010
Known GenesKCTD20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665343
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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