A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988243



Internal ID7075514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:52541915..52543739hg38UCSC Ensembl
Outerchr1:53007587..53009411hg19UCSC Ensembl
Outerchr1:52780175..52781999hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383251
hg193251
hg183251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565052
SamplesHuRef
Known GenesZCCHC11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988243
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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