A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674423



Internal ID9593842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75942469..75942991hg38UCSC Ensembl
chr7:75571787..75572309hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5674861, essv6191810, essv5505096, essv6140033, essv5682762, essv5726075, essv6258485, essv5445534, essv5483198
SamplesNA19436, NA19469, NA19914, NA20356, NA19390, NA19652, NA19360, NA19395, NA19347
Known GenesPOR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674423
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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