A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004475



Internal ID7069572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76188861..76192258hg38UCSC Ensembl
Outerchr5:75484686..75488083hg19UCSC Ensembl
Outerchr5:75520442..75523839hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382950
hg192950
hg182950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564940
SamplesHuRef
Known GenesSV2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004475
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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