A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751914



Internal ID12985466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43115946..43261813hg38UCSC Ensembl
Innerchr20:41744586..41890453hg19UCSC Ensembl
Innerchr20:41178000..41323867hg18UCSC Ensembl
Innerchr20:41178000..41323867hg17UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38145868
hg19145868
hg18145868
hg17145868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981526, essv6981527, essv6981528, essv6985597, essv6985598
SamplesBEC_293
Known GenesPTPRT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751914
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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