A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11438116



Internal ID1439932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53602725..53608636hg38UCSC Ensembl
Innerchr4:53602725..53608636hg38UCSC Ensembl
Outerchr4:53602604..53608755hg38UCSC Ensembl
chr4:54468892..54474803hg19UCSC Ensembl
Innerchr4:54468892..54474803hg19UCSC Ensembl
Outerchr4:54468771..54474922hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385912
hg195912
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600530
Supporting Variants
SamplesHG02494
Known GenesLNX1-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11438116
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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