A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669972



Internal ID9936077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131773478..131775984hg38UCSC Ensembl
chr7:131458237..131460743hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg382507
hg192507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5472311, essv5968350
SamplesNA19908, NA19435
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669972
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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