A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565206



Internal ID7036588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126959270..126967807hg38UCSC Ensembl
Outerchr2:127716846..127725383hg19UCSC Ensembl
Outerchr2:127433316..127441853hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388538
hg198538
hg188538
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000403
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565206
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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