A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12006699



Internal ID3105573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104361324..104453212hg38UCSC Ensembl
chr5:103697025..103788913hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3891889
hg1991889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606109
Supporting Variants
SamplesHG02727
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12006699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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