A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585412



Internal ID346991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2979591..2979833hg38UCSC Ensembl
Outerchr12:2976527..2986732hg38UCSC Ensembl
Innerchr12:3088757..3088999hg19UCSC Ensembl
Outerchr12:3085693..3095898hg19UCSC Ensembl
Innerchr12:2959018..2959260hg18UCSC Ensembl
Outerchr12:2955954..2966159hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810206
hg1910206
hg1810206
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275406
Supporting Variants
Samples
Known GenesTEAD4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585412
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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