A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658263



Internal ID9924368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73914920..73916919hg38UCSC Ensembl
chr7:73329250..73331249hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6255292, essv5396919, essv6502987, essv5443189
SamplesNA20508, NA20532, NA18595, HG01375
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658263
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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