A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11807184



Internal ID4587400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9375418..9410785hg38UCSC Ensembl
Innerchr5:9375418..9410785hg38UCSC Ensembl
Outerchr5:9374918..9411285hg38UCSC Ensembl
chr5:9375530..9410897hg19UCSC Ensembl
Innerchr5:9375530..9410897hg19UCSC Ensembl
Outerchr5:9375030..9411397hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3835368
hg1935368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603973
Supporting Variants
SamplesHG04099
Known GenesSEMA5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11807184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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