A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367230



Internal ID15214206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77508475..77510273hg38UCSC Ensembl
Innerchr17:77509273..77509475hg38UCSC Ensembl
Outerchr17:77507475..77511273hg38UCSC Ensembl
chr17:75504557..75506355hg19UCSC Ensembl
Innerchr17:75505355..75505557hg19UCSC Ensembl
Outerchr17:75503557..75507355hg19UCSC Ensembl
chr17:73016152..73017950hg18UCSC Ensembl
Innerchr17:73017152..73016950hg18UCSC Ensembl
Outerchr17:73015152..73018950hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1819e59
Supporting Variantsessv8691031
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367230
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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