A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677113



Internal ID9596532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:71211371..71213165hg38UCSC Ensembl
Outerchr7:71211214..71213318hg38UCSC Ensembl
Innerchr7:70676357..70678151hg19UCSC Ensembl
Outerchr7:70676200..70678304hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg382105
hg192105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5669407, essv6032234, essv5566383, essv6043676
SamplesHG00475, HG00663, NA18548, HG00708
Known GenesWBSCR17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677113
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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