A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11191742



Internal ID6851826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155482967..155691849hg38UCSC Ensembl
chr3:155200756..155409638hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38208883
hg19208883
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598278
Supporting Variants
SamplesNA21088
Known GenesPLCH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11191742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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