A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15580893



Internal ID6216205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1400684..1401887hg38UCSC Ensembl
Innerchr17:1400731..1401841hg38UCSC Ensembl
Outerchr17:1400638..1401934hg38UCSC Ensembl
chr17:1303978..1305181hg19UCSC Ensembl
Innerchr17:1304025..1305135hg19UCSC Ensembl
Outerchr17:1303932..1305228hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639683
Supporting Variants
SamplesNA19741
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15580893
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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