A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12101510



Internal ID5107925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151988601..151990013hg38UCSC Ensembl
Innerchr5:151988652..151989963hg38UCSC Ensembl
Outerchr5:151988551..151990064hg38UCSC Ensembl
chr5:151368162..151369574hg19UCSC Ensembl
Innerchr5:151368213..151369524hg19UCSC Ensembl
Outerchr5:151368112..151369625hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381413
hg191413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607190
Supporting Variants
SamplesNA18558
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12101510
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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