A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14250959



Internal ID5437024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:100696531..100697418hg38UCSC Ensembl
Innerchr11:100696581..100697368hg38UCSC Ensembl
Outerchr11:100696481..100697468hg38UCSC Ensembl
chr11:100567262..100568149hg19UCSC Ensembl
Innerchr11:100567312..100568099hg19UCSC Ensembl
Outerchr11:100567212..100568199hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38888
hg19888
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627491
Supporting Variants
SamplesNA18959
Known GenesARHGAP42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14250959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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