A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005712



Internal ID7070807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550773..31552343hg38UCSC Ensembl
Innerchr7:31590387..31591957hg19UCSC Ensembl
Innerchr7:31556912..31558482hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381571
hg191571
hg181571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166e180
Supporting Variantsessv3586606
SamplesHuRef
Known GenesCCDC129
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005712
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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