A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993805



Internal ID7078796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550776..31552390hg38UCSC Ensembl
Innerchr7:31590390..31592004hg19UCSC Ensembl
Innerchr7:31556915..31558529hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381615
hg191615
hg181615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166e180
Supporting Variantsessv3587215
SamplesHuRef
Known GenesCCDC129
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993805
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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