A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11432610



Internal ID1434426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52853611..52866908hg38UCSC Ensembl
Innerchr4:52853636..52866884hg38UCSC Ensembl
Outerchr4:52853587..52866933hg38UCSC Ensembl
chr4:53719778..53733075hg19UCSC Ensembl
Innerchr4:53719803..53733051hg19UCSC Ensembl
Outerchr4:53719754..53733100hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3813298
hg1913298
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600511
Supporting Variants
SamplesHG00357
Known GenesRASL11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11432610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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