A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604816



Internal ID6991844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40421200..40423119hg38UCSC Ensembl
Innerchr5:40421234..40423085hg38UCSC Ensembl
Outerchr5:40421166..40423153hg38UCSC Ensembl
chr5:40421302..40423221hg19UCSC Ensembl
Innerchr5:40421336..40423187hg19UCSC Ensembl
Outerchr5:40421268..40423255hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381920
hg191920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11875554
SamplesHG01923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604816
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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