A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980675



Internal ID12625126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31179999..31257399hg38UCSC Ensembl
Innerchr12:31332933..31410333hg19UCSC Ensembl
Innerchr12:31224200..31301600hg18UCSC Ensembl
Innerchr12:31224200..31301600hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3877401
hg1977401
hg1877401
hg1777401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751069
Supporting Variants
SamplesBEC_104
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980675
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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