A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11841722



Internal ID3903512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:23197731..23209829hg38UCSC Ensembl
Innerchr5:23197739..23209822hg38UCSC Ensembl
Outerchr5:23197724..23209837hg38UCSC Ensembl
chr5:23197840..23209938hg19UCSC Ensembl
Innerchr5:23197848..23209931hg19UCSC Ensembl
Outerchr5:23197833..23209946hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3812099
hg1912099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604368
Supporting Variants
SamplesHG03558
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11841722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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