A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6323631



Internal ID9814422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70623715..70628555hg38UCSC Ensembl
Outerchr2:70623528..70628708hg38UCSC Ensembl
Innerchr2:70850847..70855687hg19UCSC Ensembl
Outerchr2:70850660..70855840hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385181
hg195181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671901
Supporting Variants
SamplesNA19921
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6323631
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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