A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986699



Internal ID12979082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105028648..105089648hg38UCSC Ensembl
Innerchr13:105680999..105741999hg19UCSC Ensembl
Innerchr13:104479000..104540000hg18UCSC Ensembl
Innerchr13:104479000..104540000hg17UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3861001
hg1961001
hg1861001
hg1761001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34774
Supporting Variants
SamplesNA12236
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986699
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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