A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11603182



Internal ID2099085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130085551..130094189hg38UCSC Ensembl
Innerchr4:130085701..130094039hg38UCSC Ensembl
Outerchr4:130085401..130094339hg38UCSC Ensembl
chr4:131006706..131015344hg19UCSC Ensembl
Innerchr4:131006856..131015194hg19UCSC Ensembl
Outerchr4:131006556..131015494hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg388639
hg198639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602197
Supporting Variants
SamplesHG01914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11603182
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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