A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981334



Internal ID12973195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31860199..31910099hg38UCSC Ensembl
Innerchr12:32013133..32063033hg19UCSC Ensembl
Innerchr12:31904400..31954300hg18UCSC Ensembl
Innerchr12:31904400..31954300hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3849901
hg1949901
hg1849901
hg1749901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751089
Supporting Variants
SamplesBEC_387
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981334
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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