A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716101



Internal ID5717917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60692566..60694270hg38UCSC Ensembl
Innerchr17:60692716..60694120hg38UCSC Ensembl
Outerchr17:60692416..60694420hg38UCSC Ensembl
chr17:58769927..58771631hg19UCSC Ensembl
Innerchr17:58770077..58771481hg19UCSC Ensembl
Outerchr17:58769777..58771781hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640931
Supporting Variants
SamplesHG03108
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716101
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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