A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6306298



Internal ID9283701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25457979..25461023hg38UCSC Ensembl
Outerchr2:25457942..25461073hg38UCSC Ensembl
Innerchr2:25680848..25683892hg19UCSC Ensembl
Outerchr2:25680811..25683942hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383132
hg193132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675591
Supporting Variants
SamplesHG00657
Known GenesDTNB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6306298
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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