A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14173743



Internal ID3253967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58832286..58836413hg38UCSC Ensembl
chr11:58599759..58603886hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384128
hg194128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626524
Supporting Variants
SamplesHG02878
Known GenesGLYATL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14173743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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