A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670616



Internal ID9936721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34818105..34818788hg38UCSC Ensembl
Outerchr19:34818068..34818838hg38UCSC Ensembl
Innerchr19:35309009..35309692hg19UCSC Ensembl
Outerchr19:35308972..35309742hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5428054, essv6019745, essv5837450, essv6103766, essv5597805
SamplesNA19914, NA19385, HG01171, NA19395, NA18858
Known GenesLOC400685
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670616
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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