A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809197



Internal ID13302935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51709637..51709703hg38UCSC Ensembl
Innerchr3:51709636..51709704hg38UCSC Ensembl
Outerchr3:51709527..51709823hg38UCSC Ensembl
chr3:51743653..51743719hg19UCSC Ensembl
Innerchr3:51743652..51743720hg19UCSC Ensembl
Outerchr3:51743543..51743839hg19UCSC Ensembl
chr3:51718693..51718759hg18UCSC Ensembl
Innerchr3:51718760..51718692hg18UCSC Ensembl
Outerchr3:51718583..51718879hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330449
Supporting Variants
SamplesNA12878
Known GenesGRM2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809197
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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