A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12117622



Internal ID5148580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161113658..161123322hg38UCSC Ensembl
Innerchr5:161113659..161123322hg38UCSC Ensembl
Outerchr5:161113658..161123323hg38UCSC Ensembl
chr5:160540665..160550329hg19UCSC Ensembl
Innerchr5:160540666..160550329hg19UCSC Ensembl
Outerchr5:160540665..160550330hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg389665
hg199665
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607393
Supporting Variants
SamplesNA18577
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12117622
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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