A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641057



Internal ID7027831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66280548..66283901hg38UCSC Ensembl
Innerchr17:66280602..66283851hg38UCSC Ensembl
Outerchr17:66280448..66284001hg38UCSC Ensembl
chr17:64276666..64280019hg19UCSC Ensembl
Innerchr17:64276720..64279969hg19UCSC Ensembl
Outerchr17:64276566..64280119hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383354
hg193354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584e214
Supporting Variantsessv15725022, essv15725026, essv15725024, essv15725023, essv15725029, essv15725025, essv15725028, essv15725027
SamplesNA21089, HG04018, HG03943, HG03007, HG04039, HG04107, HG04235, HG04080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641057
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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