A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627861



Internal ID6668005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117867313..117873199hg38UCSC Ensembl
Innerchr11:117867313..117873199hg38UCSC Ensembl
Outerchr11:117866813..117873699hg38UCSC Ensembl
chr11:117738028..117743914hg19UCSC Ensembl
Innerchr11:117738028..117743914hg19UCSC Ensembl
Outerchr11:117737528..117744414hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14293144
SamplesHG01970
Known GenesFXYD6, FXYD6-FXYD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627861
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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