A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671867



Internal ID9937972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5492400..5493879hg38UCSC Ensembl
Outerchr7:5492363..5493929hg38UCSC Ensembl
Innerchr7:5532031..5533510hg19UCSC Ensembl
Outerchr7:5531994..5533560hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6380444, essv5839332
SamplesHG00525, NA19009
Known GenesFBXL18
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671867
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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