A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14116497



Internal ID4118313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45140524..45143543hg38UCSC Ensembl
Innerchr11:45140545..45143523hg38UCSC Ensembl
Outerchr11:45140504..45143564hg38UCSC Ensembl
chr11:45162075..45165094hg19UCSC Ensembl
Innerchr11:45162096..45165074hg19UCSC Ensembl
Outerchr11:45162055..45165115hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383020
hg193020
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626171
Supporting Variants
SamplesHG00306
Known GenesPRDM11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14116497
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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