A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15605444



Internal ID5607260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8259266..8261054hg38UCSC Ensembl
Innerchr17:8259316..8261004hg38UCSC Ensembl
Outerchr17:8259216..8261104hg38UCSC Ensembl
chr17:8162584..8164372hg19UCSC Ensembl
Innerchr17:8162634..8164322hg19UCSC Ensembl
Outerchr17:8162534..8164422hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381789
hg191789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639880
Supporting Variants
SamplesHG04195
Known GenesPFAS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15605444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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