A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443735



Internal ID15290688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38235236..38237434hg38UCSC Ensembl
Innerchr4:38236236..38236434hg38UCSC Ensembl
Outerchr4:38234236..38238434hg38UCSC Ensembl
chr4:38236857..38239055hg19UCSC Ensembl
Innerchr4:38237857..38238055hg19UCSC Ensembl
Outerchr4:38235857..38240055hg19UCSC Ensembl
chr4:37913252..37915450hg18UCSC Ensembl
Innerchr4:37914252..37914450hg18UCSC Ensembl
Outerchr4:37912252..37916450hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694412
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443735
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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