A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670227



Internal ID9936332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:19814703..19820962hg38UCSC Ensembl
Outerchr6:19814546..19821115hg38UCSC Ensembl
Innerchr6:19814934..19821193hg19UCSC Ensembl
Outerchr6:19814777..19821346hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386570
hg196570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6017162, essv5795141, essv6113958
SamplesNA12286, NA18632, NA18564
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670227
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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