A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640920



Internal ID6681005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60057792..60059523hg38UCSC Ensembl
Innerchr17:60057821..60059495hg38UCSC Ensembl
Outerchr17:60057764..60059552hg38UCSC Ensembl
chr17:58135153..58136884hg19UCSC Ensembl
Innerchr17:58135182..58136856hg19UCSC Ensembl
Outerchr17:58135125..58136913hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg381732
hg191732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15714815
SamplesHG02688
Known GenesHEATR6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640920
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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