A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751089



Internal ID12984641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31846713..31923802hg38UCSC Ensembl
Innerchr12:31999647..32076736hg19UCSC Ensembl
Innerchr12:31890914..31968003hg18UCSC Ensembl
Innerchr12:31890914..31968003hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3877090
hg1977090
hg1877090
hg1777090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e55
Supporting Variantsessv6985551, essv6981333, essv6981335, essv6981334
SamplesBEC_387
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)esv2751089
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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