A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387907



Internal ID14888190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231004193..231005802hg38UCSC Ensembl
Innerchr2:231004193..231005802hg38UCSC Ensembl
Outerchr2:231004030..231005823hg38UCSC Ensembl
chr2:231868908..231870517hg19UCSC Ensembl
Innerchr2:231868908..231870517hg19UCSC Ensembl
Outerchr2:231868745..231870538hg19UCSC Ensembl
chr2:231577152..231578761hg18UCSC Ensembl
Innerchr2:231577152..231578761hg18UCSC Ensembl
Outerchr2:231576989..231578782hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381610
hg191610
hg181610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652194
SamplesNA19240
Known GenesSPATA3
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387907
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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