A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587597



Internal ID6627898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154035851..154036713hg38UCSC Ensembl
Innerchr1:154035867..154036697hg38UCSC Ensembl
Outerchr1:154035835..154036729hg38UCSC Ensembl
chr1:154008327..154009189hg19UCSC Ensembl
Innerchr1:154008343..154009173hg19UCSC Ensembl
Outerchr1:154008311..154009205hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151452, essv10151453, essv10151450, essv10151451
SamplesHG03593, HG02137, HG01797, NA18571
Known GenesNUP210L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587597
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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