A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614631



Internal ID7001524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112792950..112833439hg38UCSC Ensembl
chr7:112433005..112473494hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3840490
hg1940490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1323e214
Supporting Variantsessv12931071, essv12931069, essv12931073, essv12931072, essv12931070
SamplesHG00384, HG00271, NA20516, HG00342, HG00343
Known GenesC7orf60
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614631
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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