A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674218



Internal ID9593637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:71494143..71494714hg38UCSC Ensembl
Outerchr7:71493986..71494867hg38UCSC Ensembl
Innerchr7:70959128..70959699hg19UCSC Ensembl
Outerchr7:70958971..70959852hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6198358, essv6097506, essv6370515
SamplesNA12827, HG01183, HG01102
Known GenesWBSCR17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674218
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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