A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307766



Internal ID14808028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78902451..78902452hg38UCSC Ensembl
Innerchr4:78902403..78902500hg38UCSC Ensembl
Outerchr4:78902402..78902501hg38UCSC Ensembl
chr4:79823605..79823606hg19UCSC Ensembl
Innerchr4:79823557..79823654hg19UCSC Ensembl
Outerchr4:79823556..79823655hg19UCSC Ensembl
chr4:80042629..80042630hg18UCSC Ensembl
Innerchr4:80042678..80042581hg18UCSC Ensembl
Outerchr4:80042580..80042679hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758477, essv7759260, essv7746496, essv7747880
SamplesNA18508, NA18858, NA18909, NA19225
Known GenesBMP2K
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307766
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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