A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639643



Internal ID7026421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:796720..801593hg38UCSC Ensembl
Innerchr17:796758..801555hg38UCSC Ensembl
Outerchr17:796682..801631hg38UCSC Ensembl
chr17:699960..704833hg19UCSC Ensembl
Innerchr17:699998..704795hg19UCSC Ensembl
Outerchr17:699922..704871hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384874
hg194874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15573154, essv15573155
SamplesNA18617, HG00182
Known GenesNXN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639643
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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