A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987186



Internal ID12982922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52353388..52676443hg38UCSC Ensembl
Innerchr5:51649222..51972277hg19UCSC Ensembl
Innerchr5:51684979..52008034hg18UCSC Ensembl
Innerchr5:51684979..52008034hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38323056
hg19323056
hg18323056
hg17323056
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)essv6987186
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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