A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326018



Internal ID14826298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49295421..49295440hg38UCSC Ensembl
Innerchr17:49295417..49295444hg38UCSC Ensembl
Outerchr17:49295398..49295463hg38UCSC Ensembl
chr17:47372783..47372802hg19UCSC Ensembl
Innerchr17:47372779..47372806hg19UCSC Ensembl
Outerchr17:47372760..47372825hg19UCSC Ensembl
chr17:44727782..44727801hg18UCSC Ensembl
Innerchr17:44727805..44727778hg18UCSC Ensembl
Outerchr17:44727759..44727824hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9673990, essv9673979
SamplesNA11881, NA12873
Known GenesZNF652
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326018
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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