A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675457



Internal ID9941562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:70224443..70225665hg38UCSC Ensembl
Outerchr9:70224406..70225715hg38UCSC Ensembl
Innerchr9:72839359..72840581hg19UCSC Ensembl
Outerchr9:72839322..72840631hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg381310
hg191310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6238965
SamplesHG00737
Known GenesMAMDC2, SMC5-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675457
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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