A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438495



Internal ID14938762
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690754
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438495
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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