A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6543652



Internal ID9422530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165813243..165817767hg38UCSC Ensembl
Outerchr2:165813209..165817802hg38UCSC Ensembl
Innerchr2:166669753..166674277hg19UCSC Ensembl
Outerchr2:166669719..166674312hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384594
hg194594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673437
Supporting Variants
SamplesNA18622
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6543652
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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