A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690754



Internal ID14712952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36192190..36195938hg38UCSC Ensembl
Innerchr17:36193194..36195295hg38UCSC Ensembl
Outerchr17:36191190..36195938hg38UCSC Ensembl
chr17:34607639..34611737hg19UCSC Ensembl
Innerchr17:34608639..34610737hg19UCSC Ensembl
Outerchr17:34606639..34612737hg19UCSC Ensembl
chr17:31631752..31635850hg18UCSC Ensembl
Innerchr17:31632752..31634850hg18UCSC Ensembl
Outerchr17:31630752..31636850hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383749
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3438495
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690754
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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