A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985115



Internal ID12636112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128299..31237999hg38UCSC Ensembl
Innerchr12:31281233..31390933hg19UCSC Ensembl
Innerchr12:31172500..31282200hg18UCSC Ensembl
Innerchr12:31172500..31282200hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38109701
hg19109701
hg18109701
hg17109701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751059
Supporting Variants
SamplesSPC_10
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985115
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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