A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15584416



Internal ID4728109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2557483..2558664hg38UCSC Ensembl
Innerchr17:2557494..2558654hg38UCSC Ensembl
Outerchr17:2557473..2558675hg38UCSC Ensembl
chr17:2460777..2461958hg19UCSC Ensembl
Innerchr17:2460788..2461948hg19UCSC Ensembl
Outerchr17:2460767..2461969hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639711
Supporting Variants
SamplesNA06986
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15584416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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