A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15584605



Internal ID5853577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2737667..2741413hg38UCSC Ensembl
Innerchr17:2737667..2741413hg38UCSC Ensembl
Outerchr17:2737167..2741913hg38UCSC Ensembl
chr17:2640961..2644707hg19UCSC Ensembl
Innerchr17:2640961..2644707hg19UCSC Ensembl
Outerchr17:2640461..2645207hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383747
hg193747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639717
Supporting Variants
SamplesNA19225
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15584605
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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