A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15695143



Internal ID5696959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50766757..50767142hg38UCSC Ensembl
Innerchr17:50766758..50767142hg38UCSC Ensembl
Outerchr17:50766757..50767143hg38UCSC Ensembl
chr17:48844118..48844503hg19UCSC Ensembl
Innerchr17:48844119..48844503hg19UCSC Ensembl
Outerchr17:48844118..48844504hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640753
Supporting Variants
SamplesNA18489
Known GenesLINC00483
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15695143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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