A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995047



Internal ID6730997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120465203..120470079hg38UCSC Ensembl
Outerchr10:122224715..122229591hg19UCSC Ensembl
Outerchr10:122214705..122219581hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg384877
hg194877
hg184877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565820
SamplesHuRef
Known GenesPPAPDC1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995047
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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