A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673978



Internal ID9940083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128731185..128731351hg38UCSC Ensembl
Outerchr7:128731148..128731401hg38UCSC Ensembl
Innerchr7:128371239..128371405hg19UCSC Ensembl
Outerchr7:128371202..128371455hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6204277, essv6245241
SamplesNA18973, NA19657
Known GenesFAM71F1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673978
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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