A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15702335



Internal ID4615024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54955668..54958835hg38UCSC Ensembl
Innerchr17:54955668..54958835hg38UCSC Ensembl
Outerchr17:54955452..54959047hg38UCSC Ensembl
chr17:53033029..53036196hg19UCSC Ensembl
Innerchr17:53033029..53036196hg19UCSC Ensembl
Outerchr17:53032813..53036408hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383168
hg193168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640831
Supporting Variants
SamplesHG04152
Known GenesCOX11, TOM1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15702335
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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