A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640937



Internal ID6681022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60860243..60867569hg38UCSC Ensembl
Innerchr17:60860743..60867069hg38UCSC Ensembl
Outerchr17:60859243..60868569hg38UCSC Ensembl
chr17:58937604..58944930hg19UCSC Ensembl
Innerchr17:58938104..58944430hg19UCSC Ensembl
Outerchr17:58936604..58945930hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg387327
hg197327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15716231, essv15716232, essv15716230
SamplesNA20808, NA20805, NA19651
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640937
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer