A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15580863



Internal ID5644445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1296318..1297760hg38UCSC Ensembl
Innerchr17:1296361..1297717hg38UCSC Ensembl
Outerchr17:1296275..1297803hg38UCSC Ensembl
chr17:1199612..1201054hg19UCSC Ensembl
Innerchr17:1199655..1201011hg19UCSC Ensembl
Outerchr17:1199569..1201097hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639679
Supporting Variants
SamplesNA19064
Known GenesTUSC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15580863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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