A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694095



Internal ID14694347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51962296..51963694hg38UCSC Ensembl
Innerchr3:51962694..51963296hg38UCSC Ensembl
Outerchr3:51961296..51964694hg38UCSC Ensembl
chr3:51996312..51997710hg19UCSC Ensembl
Innerchr3:51996710..51997312hg19UCSC Ensembl
Outerchr3:51995312..51998710hg19UCSC Ensembl
chr3:51971352..51972750hg18UCSC Ensembl
Innerchr3:51972352..51971750hg18UCSC Ensembl
Outerchr3:51970352..51973750hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365586
Supporting Variants
SamplesNA19239
Known GenesPCBP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694095
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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