A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34439



Internal ID12643792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48147974..48385779hg38UCSC Ensembl
Innerchr12:48541757..48779562hg19UCSC Ensembl
Innerchr12:46828024..47065829hg18UCSC Ensembl
Innerchr12:46828024..47065829hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38237806
hg19237806
hg18237806
hg17237806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979488, essv6979487, essv6979489, essv6979490
SamplesNA18563
Known GenesASB8, C12orf68, H1FNT, OR10AD1, ZNF641
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)esv34439
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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