A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12039138



Internal ID1440631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120951576..121082531hg38UCSC Ensembl
chr5:120287271..120418226hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38130956
hg19130956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606548
Supporting Variants
SamplesHG01326
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12039138
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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