A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1511e214



Internal ID20122934
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3621843, esv3621840
SamplesNA19716, NA20289
Known GenesC9orf78, MIR6855, PRRX2, PTGES, TOR1A, TOR1B, USP20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1511e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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