A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12132665



Internal ID2134481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171941906..171947137hg38UCSC Ensembl
Innerchr5:171941921..171947122hg38UCSC Ensembl
Outerchr5:171941891..171947152hg38UCSC Ensembl
chr5:171368910..171374141hg19UCSC Ensembl
Innerchr5:171368925..171374126hg19UCSC Ensembl
Outerchr5:171368895..171374156hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385232
hg195232
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607585
Supporting Variants
SamplesNA19307
Known GenesFBXW11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12132665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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