A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600484



Internal ID6987527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:51936318..51948897hg38UCSC Ensembl
Innerchr4:51936318..51948897hg38UCSC Ensembl
Outerchr4:51935818..51949397hg38UCSC Ensembl
chr4:52802484..52815063hg19UCSC Ensembl
Innerchr4:52802484..52815063hg19UCSC Ensembl
Outerchr4:52801984..52815563hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812580
hg1912580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11430697, essv11430698
SamplesHG02974, HG03025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600484
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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