A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336658



Internal ID15183646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2446527..2449225hg38UCSC Ensembl
Innerchr4:2447527..2448225hg38UCSC Ensembl
Outerchr4:2445527..2450225hg38UCSC Ensembl
chr4:2448254..2450952hg19UCSC Ensembl
Innerchr4:2449254..2449952hg19UCSC Ensembl
Outerchr4:2447254..2451952hg19UCSC Ensembl
chr4:2418052..2420750hg18UCSC Ensembl
Innerchr4:2419052..2419750hg18UCSC Ensembl
Outerchr4:2417052..2421750hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694370
SamplesNA19240
Known GenesLOC402160
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336658
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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