A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14187262



Internal ID6669290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64702619..64711304hg38UCSC Ensembl
Innerchr11:64702619..64711304hg38UCSC Ensembl
Outerchr11:64702119..64711804hg38UCSC Ensembl
chr11:64470091..64478776hg19UCSC Ensembl
Innerchr11:64470091..64478776hg19UCSC Ensembl
Outerchr11:64469591..64479276hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg388686
hg198686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626664
Supporting Variants
SamplesNA20809
Known GenesNRXN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14187262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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