A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986855



Internal ID12633440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37923958..38552431hg38UCSC Ensembl
Innerchr12:38317760..38946233hg19UCSC Ensembl
Innerchr12:36604027..37232500hg18UCSC Ensembl
Innerchr12:36604027..37232500hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38628474
hg19628474
hg18628474
hg17628474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34542
Supporting Variants
SamplesNA18547
Known GenesALG10B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986855
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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