A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11014140



Internal ID4222505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53184253..53214307hg38UCSC Ensembl
Innerchr3:53184403..53214157hg38UCSC Ensembl
Outerchr3:53184103..53214457hg38UCSC Ensembl
chr3:53218269..53248323hg19UCSC Ensembl
Innerchr3:53218419..53248173hg19UCSC Ensembl
Outerchr3:53218119..53248473hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3830055
hg1930055
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596168
Supporting Variants
SamplesHG03796
Known GenesPRKCD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11014140
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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