A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349198



Internal ID15196180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7174409..7176207hg38UCSC Ensembl
Innerchr17:7175207..7175409hg38UCSC Ensembl
Outerchr17:7173409..7177207hg38UCSC Ensembl
chr17:7077728..7079526hg19UCSC Ensembl
Innerchr17:7078526..7078728hg19UCSC Ensembl
Outerchr17:7076728..7080526hg19UCSC Ensembl
chr17:7018452..7020250hg18UCSC Ensembl
Innerchr17:7019452..7019250hg18UCSC Ensembl
Outerchr17:7017452..7021250hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1683e59
Supporting Variantsessv8691017
SamplesNA12892
Known GenesASGR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349198
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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