A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985191



Internal ID12982930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52392696..52623504hg38UCSC Ensembl
Innerchr5:51688530..51919338hg19UCSC Ensembl
Innerchr5:51724287..51955095hg18UCSC Ensembl
Innerchr5:51724287..51955095hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38230809
hg19230809
hg18230809
hg17230809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752072
Supporting Variants
SamplesSPC_121
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985191
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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