A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640704



Internal ID7027478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47769074..47769554hg38UCSC Ensembl
Innerchr17:47769078..47769550hg38UCSC Ensembl
Outerchr17:47769070..47769558hg38UCSC Ensembl
chr17:45846440..45846920hg19UCSC Ensembl
Innerchr17:45846444..45846916hg19UCSC Ensembl
Outerchr17:45846436..45846924hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15687920
SamplesHG03229
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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