A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009804



Internal ID7074098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46965991..46969646hg38UCSC Ensembl
Outerchr2:47193130..47196785hg19UCSC Ensembl
Outerchr2:47046634..47050289hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383656
hg193656
hg183656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564083
SamplesHuRef
Known GenesTTC7A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009804
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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