A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989007



Internal ID6724977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26714469..26716216hg38UCSC Ensembl
Outerchr2:26937337..26939084hg19UCSC Ensembl
Outerchr2:26790841..26792588hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382453
hg192453
hg182453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564082
SamplesHuRef
Known GenesKCNK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989007
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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