A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11103448



Internal ID6893665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111830538..111850074hg38UCSC Ensembl
Innerchr3:111830545..111850068hg38UCSC Ensembl
Outerchr3:111830532..111850081hg38UCSC Ensembl
chr3:111549385..111568921hg19UCSC Ensembl
Innerchr3:111549392..111568915hg19UCSC Ensembl
Outerchr3:111549379..111568928hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3819537
hg1919537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597399
Supporting Variants
SamplesNA21107
Known GenesPHLDB2, PLCXD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11103448
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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