A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987668



Internal ID12636752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47555362..47620431hg38UCSC Ensembl
Innerchr12:47949145..48014214hg19UCSC Ensembl
Innerchr12:46235412..46300481hg18UCSC Ensembl
Innerchr12:46235412..46300481hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3865070
hg1965070
hg1865070
hg1765070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751101
Supporting Variants
SamplesSPC_173
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987668
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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