A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15657185



Internal ID6062232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29455111..29457305hg38UCSC Ensembl
Innerchr17:29455139..29457278hg38UCSC Ensembl
Outerchr17:29455084..29457333hg38UCSC Ensembl
chr17:27782129..27784323hg19UCSC Ensembl
Innerchr17:27782157..27784296hg19UCSC Ensembl
Outerchr17:27782102..27784351hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382195
hg192195
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640327
Supporting Variants
SamplesNA19454
Known GenesTAOK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15657185
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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