A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985038



Internal ID12977975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31838599..31919699hg38UCSC Ensembl
Innerchr12:31991533..32072633hg19UCSC Ensembl
Innerchr12:31882800..31963900hg18UCSC Ensembl
Innerchr12:31882800..31963900hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3881101
hg1981101
hg1881101
hg1781101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751086
Supporting Variants
SamplesBEC_826
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985038
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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