A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7624n54



Internal ID22775519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57709290..57710484hg38UCSC Ensembl
chr20:56284346..56285540hg19UCSC Ensembl
chr20:55717752..55718946hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381195
hg191195
hg181195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586349, nsv586346, nsv586347, nsv586345
Samples
Known GenesPMEPA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7624n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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