A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988227



Internal ID7075498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234543592..234555311hg38UCSC Ensembl
Outerchr2:235452236..235463955hg19UCSC Ensembl
Outerchr2:235116975..235128694hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811720
hg1911720
hg1811720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564788
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988227
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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