A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606871



Internal ID6993806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135946706..135956371hg38UCSC Ensembl
Innerchr5:135946706..135956371hg38UCSC Ensembl
Outerchr5:135946206..135956871hg38UCSC Ensembl
chr5:135282395..135292060hg19UCSC Ensembl
Innerchr5:135282395..135292060hg19UCSC Ensembl
Outerchr5:135281895..135292560hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg389666
hg199666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12068558
SamplesHG01625
Known GenesLECT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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