A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11445992



Internal ID837256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:59531228..59566946hg38UCSC Ensembl
Innerchr4:59531228..59566946hg38UCSC Ensembl
Outerchr4:59530728..59567446hg38UCSC Ensembl
chr4:60396946..60432664hg19UCSC Ensembl
Innerchr4:60396946..60432664hg19UCSC Ensembl
Outerchr4:60396446..60433164hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3835719
hg1935719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600647
Supporting Variants
SamplesHG00428
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11445992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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