A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614632



Internal ID7001525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112794871..112842375hg38UCSC Ensembl
chr7:112434926..112482430hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3847505
hg1947505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1323e214
Supporting Variantsessv12931076, essv12931078, essv12931077, essv12931075, essv12931074
SamplesHG00384, HG00271, NA06984, NA20516, HG00342
Known GenesC7orf60
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614632
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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