A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985198



Internal ID12636250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125099..31249799hg38UCSC Ensembl
Innerchr12:31278033..31402733hg19UCSC Ensembl
Innerchr12:31169300..31294000hg18UCSC Ensembl
Innerchr12:31169300..31294000hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38124701
hg19124701
hg18124701
hg17124701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751055
Supporting Variants
SamplesSPC_124
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985198
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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