A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997268



Internal ID7081238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157521700..157526468hg38UCSC Ensembl
Outerchr5:156948708..156953476hg19UCSC Ensembl
Outerchr5:156881286..156886054hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384769
hg194769
hg184769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563579
SamplesHuRef
Known GenesADAM19
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997268
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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