A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985190



Internal ID12982929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52392215..52635550hg38UCSC Ensembl
Innerchr5:51688049..51931384hg19UCSC Ensembl
Innerchr5:51723806..51967141hg18UCSC Ensembl
Innerchr5:51723806..51967141hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38243336
hg19243336
hg18243336
hg17243336
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985190
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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