A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564873



Internal ID6689569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129002595..129010970hg38UCSC Ensembl
Outerchr3:128721438..128729813hg19UCSC Ensembl
Outerchr3:130204128..130212503hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388376
hg198376
hg188376
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990629
Supporting Variants
SamplesHuRef
Known GenesEFCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564873
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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