A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34737



Internal ID12990773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31838572..31910068hg38UCSC Ensembl
Innerchr12:31991506..32063002hg19UCSC Ensembl
Innerchr12:31882773..31954269hg18UCSC Ensembl
Innerchr12:31882773..31954269hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3871497
hg1971497
hg1871497
hg1771497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e55
Supporting Variantsessv6990297, essv6978884
SamplesNA12753
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)esv34737
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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