A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604823



Internal ID6991851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40735762..40740480hg38UCSC Ensembl
Innerchr5:40735763..40740479hg38UCSC Ensembl
Outerchr5:40735761..40740481hg38UCSC Ensembl
chr5:40735864..40740582hg19UCSC Ensembl
Innerchr5:40735865..40740581hg19UCSC Ensembl
Outerchr5:40735863..40740583hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384719
hg194719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11877909
SamplesNA19648
Known GenesTTC33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604823
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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