A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996331



Internal ID7063488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25362075..25424077hg38UCSC Ensembl
Innerchr1:25688566..25750568hg19UCSC Ensembl
Innerchr1:25561153..25623155hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3862003
hg1962003
hg1862003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586287
SamplesHuRef
Known GenesRHCE, TMEM50A
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996331
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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