A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690700



Internal ID13706008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:26963199..26984197hg38UCSC Ensembl
Innerchr17:26964199..26983197hg38UCSC Ensembl
Outerchr17:26962199..26985197hg38UCSC Ensembl
chr17:25290225..25311223hg19UCSC Ensembl
Innerchr17:25291225..25310223hg19UCSC Ensembl
Outerchr17:25289225..25312223hg19UCSC Ensembl
chr17:22314352..22335350hg18UCSC Ensembl
Innerchr17:22315352..22334350hg18UCSC Ensembl
Outerchr17:22313352..22336350hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3820999
hg1920999
hg1820999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3356636
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690700
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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