A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15599819



Internal ID540911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5133804..5147399hg38UCSC Ensembl
Innerchr17:5133847..5147357hg38UCSC Ensembl
Outerchr17:5133762..5147442hg38UCSC Ensembl
chr17:5037099..5050694hg19UCSC Ensembl
Innerchr17:5037142..5050652hg19UCSC Ensembl
Outerchr17:5037057..5050737hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813596
hg1913596
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639806
Supporting Variants
SamplesHG00236
Known GenesUSP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15599819
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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