A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381286



Internal ID15228258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48879434..48879500hg38UCSC Ensembl
Innerchr1:48879424..48879508hg38UCSC Ensembl
Outerchr1:48879358..48879576hg38UCSC Ensembl
chr1:49345106..49345172hg19UCSC Ensembl
Innerchr1:49345096..49345180hg19UCSC Ensembl
Outerchr1:49345030..49345248hg19UCSC Ensembl
chr1:49117693..49117759hg18UCSC Ensembl
Innerchr1:49117767..49117683hg18UCSC Ensembl
Outerchr1:49117617..49117835hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674029, essv8674030
SamplesNA19238, NA19240
Known GenesAGBL4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381286
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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