A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990473



Internal ID12978287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33532365..34607396hg38UCSC Ensembl
Innerchr12:33685300..34760331hg19UCSC Ensembl
Innerchr12:33576567..34651598hg18UCSC Ensembl
Innerchr12:33576567..34651598hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381075032
hg191075032
hg181075032
hg171075032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34883
Supporting Variants
SamplesNA07357
Known GenesALG10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990473
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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