A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331560



Internal ID14831835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76631828..76631890hg38UCSC Ensembl
Innerchr17:76631833..76631883hg38UCSC Ensembl
Outerchr17:76631771..76631947hg38UCSC Ensembl
chr17:74627910..74627972hg19UCSC Ensembl
Innerchr17:74627915..74627965hg19UCSC Ensembl
Outerchr17:74627853..74628029hg19UCSC Ensembl
chr17:72139505..72139567hg18UCSC Ensembl
Innerchr17:72139560..72139510hg18UCSC Ensembl
Outerchr17:72139448..72139624hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8972362
SamplesNA18944
Known GenesST6GALNAC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331560
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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