A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11844136



Internal ID4091897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24649741..24654828hg38UCSC Ensembl
Innerchr5:24649759..24654811hg38UCSC Ensembl
Outerchr5:24649724..24654846hg38UCSC Ensembl
chr5:24649850..24654937hg19UCSC Ensembl
Innerchr5:24649868..24654920hg19UCSC Ensembl
Outerchr5:24649833..24654955hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg385088
hg195088
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604401
Supporting Variants
SamplesHG03717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11844136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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