A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11116263



Internal ID1118079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119144924..119291446hg38UCSC Ensembl
chr3:118863771..119010293hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38146523
hg19146523
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597553
Supporting Variants
SamplesNA12489
Known GenesB4GALT4, C3orf30, IGSF11, UPK1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11116263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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