A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430862



Internal ID14931132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5855724..5857722hg38UCSC Ensembl
Innerchr4:5856722..5856724hg38UCSC Ensembl
Outerchr4:5854724..5858722hg38UCSC Ensembl
chr4:5857451..5859449hg19UCSC Ensembl
Innerchr4:5858449..5858451hg19UCSC Ensembl
Outerchr4:5856451..5860449hg19UCSC Ensembl
chr4:5908352..5910350hg18UCSC Ensembl
Innerchr4:5909352..5909350hg18UCSC Ensembl
Outerchr4:5907352..5911350hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2923e59
Supporting Variantsessv8694467
SamplesNA19238
Known GenesCRMP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430862
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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