A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980949



Internal ID12982323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30279302..30462802hg38UCSC Ensembl
Innerchr9:30279300..30462800hg19UCSC Ensembl
Innerchr9:30269300..30452800hg18UCSC Ensembl
Innerchr9:30269300..30452800hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38183501
hg19183501
hg18183501
hg17183501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35141
Supporting Variants
SamplesNA19152
Known GenesLOC401497
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980949
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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