A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605484



Internal ID6645728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77320470..77322691hg38UCSC Ensembl
Innerchr5:77320620..77322541hg38UCSC Ensembl
Outerchr5:77320320..77322841hg38UCSC Ensembl
chr5:76616295..76618516hg19UCSC Ensembl
Innerchr5:76616445..76618366hg19UCSC Ensembl
Outerchr5:76616145..76618666hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382222
hg192222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11947364, essv11947365
SamplesHG03945, HG03937
Known GenesPDE8B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605484
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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