A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335256



Internal ID15182246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2917298..2917336hg38UCSC Ensembl
Innerchr4:2917300..2917334hg38UCSC Ensembl
Outerchr4:2917296..2917338hg38UCSC Ensembl
chr4:2919025..2919063hg19UCSC Ensembl
Innerchr4:2919027..2919061hg19UCSC Ensembl
Outerchr4:2919023..2919065hg19UCSC Ensembl
chr4:2888823..2888861hg18UCSC Ensembl
Innerchr4:2888825..2888859hg18UCSC Ensembl
Outerchr4:2888821..2888863hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864245
SamplesNA12005
Known GenesADD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335256
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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