A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981528



Internal ID12972268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43136850..43260764hg38UCSC Ensembl
Innerchr20:41765490..41889404hg19UCSC Ensembl
Innerchr20:41198904..41322818hg18UCSC Ensembl
Innerchr20:41198904..41322818hg17UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38123915
hg19123915
hg18123915
hg17123915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751914
Supporting Variants
SamplesBEC_293
Known GenesPTPRT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981528
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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