A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640751



Internal ID7027525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50399059..50405101hg38UCSC Ensembl
Innerchr17:50399209..50404951hg38UCSC Ensembl
Outerchr17:50398909..50405251hg38UCSC Ensembl
chr17:48476420..48482462hg19UCSC Ensembl
Innerchr17:48476570..48482312hg19UCSC Ensembl
Outerchr17:48476270..48482612hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg386043
hg196043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15695058
SamplesHG00536
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640751
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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