A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669768



Internal ID9935873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132018164..132020067hg38UCSC Ensembl
chr7:131702923..131704826hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381904
hg191904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6218438, essv5776452, essv6446499, essv6493935, essv5654579, essv6288052, essv5911619, essv6554154, essv5713319, essv5506828, essv6378820, essv5872458
SamplesHG00626, HG01052, NA18633, NA18595, NA19007, HG00560, HG00479, NA19085, NA18636, NA19080, NA18612, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669768
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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