A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010002



Internal ID7059696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120467207..120468981hg38UCSC Ensembl
Innerchr10:122226719..122228493hg19UCSC Ensembl
Innerchr10:122216709..122218483hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg381775
hg191775
hg181775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17e180
Supporting Variantsessv3587231
SamplesHuRef
Known GenesPPAPDC1A
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010002
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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