A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564940



Internal ID7036040
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004475
Supporting Variants
SamplesHuRef
Known GenesSV2C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564940
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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