A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004672



Internal ID6716795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96235246..96235805hg38UCSC Ensembl
Outerchr14:96701583..96702142hg19UCSC Ensembl
Outerchr14:95771336..95771895hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg388198
hg198198
hg188198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565199
SamplesHuRef
Known GenesBDKRB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004672
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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