A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212837



Internal ID6171799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74195484..74201040hg38UCSC Ensembl
Innerchr11:74195484..74201040hg38UCSC Ensembl
Outerchr11:74194984..74201540hg38UCSC Ensembl
chr11:73906529..73912085hg19UCSC Ensembl
Innerchr11:73906529..73912085hg19UCSC Ensembl
Outerchr11:73906029..73912585hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg385557
hg195557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626832
Supporting Variants
SamplesNA19711
Known GenesPPME1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212837
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer