A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674955



Internal ID9941060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125287..128172hg38UCSC Ensembl
Outerchr9:125130..128325hg38UCSC Ensembl
Innerchr9:125287..128172hg19UCSC Ensembl
Outerchr9:125130..128325hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg383196
hg193196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6214493, essv5451108
SamplesHG00231, HG00142
Known GenesCBWD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674955
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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