A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004341



Internal ID6716465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139867061..139875956hg38UCSC Ensembl
Outerchr5:139246646..139255541hg19UCSC Ensembl
Outerchr5:139226830..139235725hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388896
hg198896
hg188896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565317
SamplesHuRef
Known GenesNRG2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004341
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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