A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597406



Internal ID6637676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112059938..112101968hg38UCSC Ensembl
chr3:111778785..111820815hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3842031
hg1942031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv919e214
Supporting Variantsessv11103862, essv11103863
SamplesHG02058, HG02131
Known GenesC3orf52, TMPRSS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597406
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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