A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985039



Internal ID12977976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31846060..31921794hg38UCSC Ensembl
Innerchr12:31998994..32074728hg19UCSC Ensembl
Innerchr12:31890261..31965995hg18UCSC Ensembl
Innerchr12:31890261..31965995hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3875735
hg1975735
hg1875735
hg1775735
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)essv6985039
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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