A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14194642



Internal ID4196458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66365622..66373084hg38UCSC Ensembl
Innerchr11:66365625..66373081hg38UCSC Ensembl
Outerchr11:66365619..66373087hg38UCSC Ensembl
chr11:66133093..66140555hg19UCSC Ensembl
Innerchr11:66133096..66140552hg19UCSC Ensembl
Outerchr11:66133090..66140558hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg387463
hg197463
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626693
Supporting Variants
SamplesHG03049
Known GenesSLC29A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14194642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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