A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673868



Internal ID9939973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:70106610..70108074hg38UCSC Ensembl
Outerchr17:70106453..70108227hg38UCSC Ensembl
Innerchr17:68102751..68104215hg19UCSC Ensembl
Outerchr17:68102594..68104368hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv563e199
Supporting Variantsessv6334301, essv6046858, essv5695212, essv6036146
SamplesNA19058, NA18592, NA18599, NA18612
Known GenesKCNJ16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673868
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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