A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13987614



Internal ID3989480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:194412..252166hg38UCSC Ensembl
chr11:194412..252166hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3857755
hg1957755
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625060
Supporting Variants
SamplesHG02836
Known GenesBET1L, LOC653486, MIR6743, ODF3, PSMD13, RIC8A, SCGB1C1, SIRT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13987614
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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