A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14251060



Internal ID5450561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:100805726..100809180hg38UCSC Ensembl
Innerchr11:100805756..100809151hg38UCSC Ensembl
Outerchr11:100805697..100809210hg38UCSC Ensembl
chr11:100676457..100679911hg19UCSC Ensembl
Innerchr11:100676487..100679882hg19UCSC Ensembl
Outerchr11:100676428..100679941hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg383455
hg193455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627497
Supporting Variants
SamplesNA18965
Known GenesARHGAP42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14251060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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