A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645875



Internal ID7032623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42969610..43117825hg38UCSC Ensembl
Innerchr20:42969634..43117802hg38UCSC Ensembl
Outerchr20:42969587..43117849hg38UCSC Ensembl
chr20:41598250..41746465hg19UCSC Ensembl
Innerchr20:41598274..41746442hg19UCSC Ensembl
Outerchr20:41598227..41746489hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38148216
hg19148216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16189452
SamplesHG00330
Known GenesPTPRT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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