A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751087



Internal ID12984639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31846060..31910099hg38UCSC Ensembl
Innerchr12:31998994..32063033hg19UCSC Ensembl
Innerchr12:31890261..31954300hg18UCSC Ensembl
Innerchr12:31890261..31954300hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3864040
hg1964040
hg1864040
hg1764040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e55
Supporting Variantsessv6985351, essv6987229, essv6985350
SamplesSPC_150
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)esv2751087
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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