A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600532



Internal ID6987574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53726161..53737177hg38UCSC Ensembl
chr4:54592328..54603344hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811017
hg1911017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11438319, essv11438313, essv11438315, essv11438322, essv11438317, essv11438321, essv11438316, essv11438320, essv11438314, essv11438312, essv11438318
SamplesHG00114, HG03857, NA18565, HG02727, HG03803, HG01344, NA21118, NA20875, HG03694, NA20870, NA20849
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600532
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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