A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607804



Internal ID6994735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181048691..181056724hg38UCSC Ensembl
Innerchr5:181048727..181056688hg38UCSC Ensembl
Outerchr5:181048655..181056760hg38UCSC Ensembl
chr5:180475691..180483724hg19UCSC Ensembl
Innerchr5:180475727..180483688hg19UCSC Ensembl
Outerchr5:180475655..180483760hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388034
hg198034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12156248
SamplesNA20866
Known GenesBTNL9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607804
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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