A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621843



Internal ID7008709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129737793..129885562hg38UCSC Ensembl
chr9:132500072..132647841hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38147770
hg19147770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1511e214
Supporting Variantsessv13628766
SamplesNA19716
Known GenesC9orf78, MIR6855, PTGES, TOR1A, TOR1B, USP20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621843
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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