A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13628730



Internal ID3630546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129701704..129885823hg38UCSC Ensembl
chr9:132463983..132648102hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38184120
hg19184120
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621840
Supporting Variants
SamplesNA20289
Known GenesC9orf78, MIR6855, PRRX2, PTGES, TOR1A, TOR1B, USP20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13628730
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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