A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563484



Internal ID6688839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76072608..76073847hg38UCSC Ensembl
Outerchr17:74068689..74069928hg19UCSC Ensembl
Outerchr17:71580284..71581523hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383349
hg193349
hg183349
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989375
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563484
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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