A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674961



Internal ID9594380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230806445..230809201hg38UCSC Ensembl
Outerchr2:230806288..230809354hg38UCSC Ensembl
Innerchr2:231671160..231673916hg19UCSC Ensembl
Outerchr2:231671003..231674069hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383067
hg193067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5907623, essv6309774
SamplesNA20811, HG01102
Known GenesCAB39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674961
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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