A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752072



Internal ID12985624
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 StatusM
Merged Variants
Supporting Variantsessv6985191, essv6988902, essv6987187, essv6987186, essv6985190
SamplesSPC_121
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752072
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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