A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15637119



Internal ID1899254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18272053..18274188hg38UCSC Ensembl
Innerchr17:18272080..18274161hg38UCSC Ensembl
Outerchr17:18272026..18274215hg38UCSC Ensembl
chr17:18175367..18177502hg19UCSC Ensembl
Innerchr17:18175394..18177475hg19UCSC Ensembl
Outerchr17:18175340..18177529hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382136
hg192136
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640144
Supporting Variants
SamplesHG01784
Known GenesTOP3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15637119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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