A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378966



Internal ID15225938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140286848..140289846hg38UCSC Ensembl
Innerchr4:140287848..140288846hg38UCSC Ensembl
Outerchr4:140285848..140290846hg38UCSC Ensembl
chr4:141208002..141211000hg19UCSC Ensembl
Innerchr4:141209002..141210000hg19UCSC Ensembl
Outerchr4:141207002..141212000hg19UCSC Ensembl
chr4:141427452..141430450hg18UCSC Ensembl
Innerchr4:141428452..141429450hg18UCSC Ensembl
Outerchr4:141426452..141431450hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3087e59
Supporting Variantsessv8694233
SamplesNA19238
Known GenesLOC100129858, SCOC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378966
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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