A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11788536



Internal ID6637460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2274866..2276357hg38UCSC Ensembl
Innerchr5:2274874..2276350hg38UCSC Ensembl
Outerchr5:2274859..2276365hg38UCSC Ensembl
chr5:2274980..2276471hg19UCSC Ensembl
Innerchr5:2274988..2276464hg19UCSC Ensembl
Outerchr5:2274973..2276479hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381492
hg191492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603830
Supporting Variants
SamplesNA20797
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11788536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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