A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11783552



Internal ID1785368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1594081..1601496hg38UCSC Ensembl
Innerchr5:1594081..1601496hg38UCSC Ensembl
Outerchr5:1593581..1601996hg38UCSC Ensembl
chr5:1594196..1601611hg19UCSC Ensembl
Innerchr5:1594196..1601611hg19UCSC Ensembl
Outerchr5:1593696..1602111hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387416
hg197416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603814
Supporting Variants
SamplesHG01844
Known GenesLOC728613, SDHAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11783552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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