A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606864



Internal ID6647106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135589794..135594712hg38UCSC Ensembl
Innerchr5:135589844..135594662hg38UCSC Ensembl
Outerchr5:135589706..135594800hg38UCSC Ensembl
chr5:134925484..134930402hg19UCSC Ensembl
Innerchr5:134925534..134930352hg19UCSC Ensembl
Outerchr5:134925396..134930490hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384919
hg194919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12067195, essv12067196
SamplesHG02890, HG03091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606864
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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