A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658716



Internal ID9578135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138102814..138105183hg38UCSC Ensembl
chr7:137787560..137789929hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382370
hg192370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5422367, essv6021389, essv5617549
SamplesNA11933, HG00138, NA19921
Known GenesAKR1D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658716
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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