A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984342



Internal ID12976830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59858219..59920672hg38UCSC Ensembl
Innerchr12:60252000..60314453hg19UCSC Ensembl
Innerchr12:58538267..58600720hg18UCSC Ensembl
Innerchr12:58538267..58600720hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3862454
hg1962454
hg1862454
hg1762454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751107
Supporting Variants
SamplesBEC_692
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984342
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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