A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999588



Internal ID7082196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176556325..176563438hg38UCSC Ensembl
Outerchr2:177421053..177428166hg19UCSC Ensembl
Outerchr2:177129299..177136412hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg387114
hg197114
hg187114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564686
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999588
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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