A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11103860



Internal ID1105676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112059667..112102094hg38UCSC Ensembl
chr3:111778514..111820941hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3842428
hg1942428
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597405
Supporting Variants
SamplesNA19436
Known GenesC3orf52, TMPRSS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11103860
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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