A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690699



Internal ID15059410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:26963199..26981697hg38UCSC Ensembl
Innerchr17:26964199..26980697hg38UCSC Ensembl
Outerchr17:26962199..26982697hg38UCSC Ensembl
chr17:25290225..25308723hg19UCSC Ensembl
Innerchr17:25291225..25307723hg19UCSC Ensembl
Outerchr17:25289225..25309723hg19UCSC Ensembl
chr17:22314352..22332850hg18UCSC Ensembl
Innerchr17:22315352..22331850hg18UCSC Ensembl
Outerchr17:22313352..22333850hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3818499
hg1918499
hg1818499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3332077
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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