A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691021



Internal ID15103463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7174509..7176907hg38UCSC Ensembl
Innerchr17:7175509..7175907hg38UCSC Ensembl
Outerchr17:7173509..7177907hg38UCSC Ensembl
chr17:7077828..7080226hg19UCSC Ensembl
Innerchr17:7078828..7079226hg19UCSC Ensembl
Outerchr17:7076828..7081226hg19UCSC Ensembl
chr17:7018552..7020950hg18UCSC Ensembl
Innerchr17:7019552..7019950hg18UCSC Ensembl
Outerchr17:7017552..7021950hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388860
Supporting Variants
SamplesNA19240
Known GenesASGR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691021
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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