A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14116494



Internal ID6357077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44720926..44725736hg38UCSC Ensembl
Innerchr11:44720938..44725724hg38UCSC Ensembl
Outerchr11:44720914..44725748hg38UCSC Ensembl
chr11:44742476..44747286hg19UCSC Ensembl
Innerchr11:44742488..44747274hg19UCSC Ensembl
Outerchr11:44742464..44747298hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg384811
hg194811
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626168
Supporting Variants
SamplesNA20287
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14116494
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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