A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11844010



Internal ID1312440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24221771..24280385hg38UCSC Ensembl
Innerchr5:24221790..24280366hg38UCSC Ensembl
Outerchr5:24221752..24280404hg38UCSC Ensembl
chr5:24221880..24280494hg19UCSC Ensembl
Innerchr5:24221899..24280475hg19UCSC Ensembl
Outerchr5:24221861..24280513hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3858615
hg1958615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604391
Supporting Variants
SamplesHG01149
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11844010
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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