A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626235



Internal ID7013069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48355706..48948949hg38UCSC Ensembl
Innerchr11:48356206..48948449hg38UCSC Ensembl
Outerchr11:48354706..48949949hg38UCSC Ensembl
chr11:48377258..48970501hg19UCSC Ensembl
Innerchr11:48377758..48970001hg19UCSC Ensembl
Outerchr11:48376258..48971501hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38593244
hg19593244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14123895, essv14123894
SamplesHG00250, NA12716
Known GenesOR4A47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626235
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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