A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996512



Internal ID7063554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10077189..10080961hg38UCSC Ensembl
Outerchr2:10217316..10221088hg19UCSC Ensembl
Outerchr2:10134767..10138539hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383773
hg193773
hg183773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564402
SamplesHuRef
Known GenesCYS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996512
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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