A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989769



Internal ID7076354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219187380..219194288hg38UCSC Ensembl
Outerchr2:220052102..220059010hg19UCSC Ensembl
Outerchr2:219760346..219767254hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386909
hg196909
hg186909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564109
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989769
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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