A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985916



Internal ID12637567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125099..31257399hg38UCSC Ensembl
Innerchr12:31278033..31410333hg19UCSC Ensembl
Innerchr12:31169300..31301600hg18UCSC Ensembl
Innerchr12:31169300..31301600hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38132301
hg19132301
hg18132301
hg17132301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751045
Supporting Variants
SamplesSPC_85
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985916
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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