A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433414



Internal ID14933683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169440126..169442824hg38UCSC Ensembl
Innerchr4:169441126..169441824hg38UCSC Ensembl
Outerchr4:169439126..169443824hg38UCSC Ensembl
chr4:170361277..170363975hg19UCSC Ensembl
Innerchr4:170362277..170362975hg19UCSC Ensembl
Outerchr4:170360277..170364975hg19UCSC Ensembl
chr4:170597852..170600550hg18UCSC Ensembl
Innerchr4:170598852..170599550hg18UCSC Ensembl
Outerchr4:170596852..170601550hg18UCSC Ensembl
Cytoband4q33
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 Variantsessv8694272
SamplesNA19239
Known GenesNEK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433414
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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