A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600527



Internal ID6987569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53519621..53524257hg38UCSC Ensembl
Innerchr4:53519621..53524257hg38UCSC Ensembl
Outerchr4:53519378..53524509hg38UCSC Ensembl
chr4:54385788..54390424hg19UCSC Ensembl
Innerchr4:54385788..54390424hg19UCSC Ensembl
Outerchr4:54385545..54390676hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384637
hg194637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11437299
SamplesHG01808
Known GenesLNX1, LNX1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600527
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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