A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606608



Internal ID6993543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123472791..123486327hg38UCSC Ensembl
Innerchr5:123472791..123486327hg38UCSC Ensembl
Outerchr5:123472472..123486611hg38UCSC Ensembl
chr5:122808485..122822021hg19UCSC Ensembl
Innerchr5:122808485..122822021hg19UCSC Ensembl
Outerchr5:122808166..122822305hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3813537
hg1913537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12045386, essv12045384, essv12045383, essv12045378, essv12045387, essv12045379, essv12045385, essv12045381, essv12045382, essv12045380, essv12045377
SamplesHG03045, HG01950, HG02943, HG01104, HG01882, HG02666, HG01403, NA18858, HG01958, NA19143, HG01055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606608
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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