A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005427



Internal ID7070522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:117386398..117393017hg38UCSC Ensembl
Outerchr1:117929020..117935639hg19UCSC Ensembl
Outerchr1:117730543..117737162hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg386620
hg196620
hg186620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565039
SamplesHuRef
Known GenesMAN1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005427
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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