A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673666



Internal ID9593085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76284722..76285938hg38UCSC Ensembl
Outerchr17:76284565..76286091hg38UCSC Ensembl
Innerchr17:74280803..74282019hg19UCSC Ensembl
Outerchr17:74280646..74282172hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381527
hg191527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5542843, essv6055795, essv5405892
SamplesHG01171, HG01107, HG00246
Known GenesQRICH2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673666
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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