A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981526



Internal ID12972270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43115946..43251946hg38UCSC Ensembl
Innerchr20:41744586..41880586hg19UCSC Ensembl
Innerchr20:41178000..41314000hg18UCSC Ensembl
Innerchr20:41178000..41314000hg17UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38136001
hg19136001
hg18136001
hg17136001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981526
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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