A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653172



Internal ID14683256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6674975..6674975hg38UCSC Ensembl
Innerchr17:6674974..6674976hg38UCSC Ensembl
Outerchr17:6674925..6675025hg38UCSC Ensembl
chr17:6578294..6578294hg19UCSC Ensembl
Innerchr17:6578293..6578295hg19UCSC Ensembl
Outerchr17:6578244..6578344hg19UCSC Ensembl
chr17:6519018..6519018hg18UCSC Ensembl
Innerchr17:6519019..6519017hg18UCSC Ensembl
Outerchr17:6518968..6519068hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3401096
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653172
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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