A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11487014



Internal ID3202827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68810904..68847155hg38UCSC Ensembl
chr4:69676622..69712873hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3836252
hg1936252
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600886
Supporting Variants
SamplesHG02811
Known GenesUGT2B10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11487014
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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