A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990601



Internal ID7076732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3144578..3147307hg38UCSC Ensembl
Innerchr6:3144812..3147541hg19UCSC Ensembl
Innerchr6:3089811..3092540hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382730
hg192730
hg182730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586234
SamplesHuRef
Known GenesBPHL
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990601
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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