A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691002



Internal ID15102916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73694918..73697216hg38UCSC Ensembl
Innerchr17:73695918..73696216hg38UCSC Ensembl
Outerchr17:73693918..73698216hg38UCSC Ensembl
chr17:71691057..71693355hg19UCSC Ensembl
Innerchr17:71692057..71692355hg19UCSC Ensembl
Outerchr17:71690057..71694355hg19UCSC Ensembl
chr17:69202652..69204950hg18UCSC Ensembl
Innerchr17:69203652..69203950hg18UCSC Ensembl
Outerchr17:69201652..69205950hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332470
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691002
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer