A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002656



Internal ID6714790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177515754..177523440hg38UCSC Ensembl
Outerchr5:176942755..176950441hg19UCSC Ensembl
Outerchr5:176875361..176883047hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387687
hg197687
hg187687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563738
SamplesHuRef
Known GenesDDX41, FAM193B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002656
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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