A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15693169



Internal ID5694985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48917138..48920336hg38UCSC Ensembl
Innerchr17:48917182..48920292hg38UCSC Ensembl
Outerchr17:48917094..48920380hg38UCSC Ensembl
chr17:46994500..46997698hg19UCSC Ensembl
Innerchr17:46994544..46997654hg19UCSC Ensembl
Outerchr17:46994456..46997742hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383199
hg193199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640729
Supporting Variants
SamplesHG02798
Known GenesUBE2Z
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15693169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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