A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15701744



Internal ID3558456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54236732..54246131hg38UCSC Ensembl
Innerchr17:54236749..54246114hg38UCSC Ensembl
Outerchr17:54236715..54246148hg38UCSC Ensembl
chr17:52314093..52323492hg19UCSC Ensembl
Innerchr17:52314110..52323475hg19UCSC Ensembl
Outerchr17:52314076..52323509hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640817
Supporting Variants
SamplesHG03136
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15701744
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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