A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4310n100



Internal ID22790397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42540046..42614847hg38UCSC Ensembl
chr20:41168686..41243487hg19UCSC Ensembl
chr20:40602100..40676901hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3874802
hg1974802
hg1874802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061179, nsv1056430, nsv1057508, nsv1065892, nsv1065411
Samples
Known GenesPTPRT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4310n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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