A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604794



Internal ID6991822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39594761..39598643hg38UCSC Ensembl
Innerchr5:39594776..39598629hg38UCSC Ensembl
Outerchr5:39594747..39598658hg38UCSC Ensembl
chr5:39594863..39598745hg19UCSC Ensembl
Innerchr5:39594878..39598731hg19UCSC Ensembl
Outerchr5:39594849..39598760hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383883
hg193883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11873043, essv11873044, essv11873042, essv11873041, essv11873040
SamplesHG02628, HG01890, HG03469, HG03432, HG03442
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604794
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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