A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11440335



Internal ID908445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55796598..55802469hg38UCSC Ensembl
Innerchr4:55796599..55802469hg38UCSC Ensembl
Outerchr4:55796598..55802470hg38UCSC Ensembl
chr4:56662764..56668635hg19UCSC Ensembl
Innerchr4:56662765..56668635hg19UCSC Ensembl
Outerchr4:56662764..56668636hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385872
hg195872
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600563
Supporting Variants
SamplesHG00533
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11440335
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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