A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604869



Internal ID6991897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42412238..42416561hg38UCSC Ensembl
Innerchr5:42412294..42416506hg38UCSC Ensembl
Outerchr5:42412183..42416617hg38UCSC Ensembl
chr5:42412340..42416663hg19UCSC Ensembl
Innerchr5:42412396..42416608hg19UCSC Ensembl
Outerchr5:42412285..42416719hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384324
hg194324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882286
SamplesNA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604869
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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