A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389505



Internal ID15236472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50872606..50874201hg38UCSC Ensembl
Innerchr3:50873204..50873606hg38UCSC Ensembl
Outerchr3:50871606..50875201hg38UCSC Ensembl
chr3:50910037..50911632hg19UCSC Ensembl
Innerchr3:50910635..50911037hg19UCSC Ensembl
Outerchr3:50909037..50912632hg19UCSC Ensembl
chr3:50885052..50886650hg18UCSC Ensembl
Innerchr3:50886052..50885650hg18UCSC Ensembl
Outerchr3:50884052..50887650hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg381596
hg191596
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694094
SamplesNA19239
Known GenesDOCK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389505
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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