A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691016



Internal ID13662562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7174409..7175907hg38UCSC Ensembl
Innerchr17:7174907..7175409hg38UCSC Ensembl
Outerchr17:7173409..7176907hg38UCSC Ensembl
chr17:7077728..7079226hg19UCSC Ensembl
Innerchr17:7078226..7078728hg19UCSC Ensembl
Outerchr17:7076728..7080226hg19UCSC Ensembl
chr17:7018452..7019950hg18UCSC Ensembl
Innerchr17:7019452..7018950hg18UCSC Ensembl
Outerchr17:7017452..7020950hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447810
Supporting Variants
SamplesNA12878
Known GenesASGR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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