A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671032



Internal ID9937137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:132054070..132057738hg38UCSC Ensembl
Outerchr6:132054033..132057788hg38UCSC Ensembl
Innerchr6:132375210..132378878hg19UCSC Ensembl
Outerchr6:132375173..132378928hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg383756
hg193756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6420083, essv5709435, essv5658957
SamplesNA12878, NA12249, NA12892
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671032
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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