A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310239



Internal ID14810504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112636598..112636599hg38UCSC Ensembl
Innerchr1:112636571..112636626hg38UCSC Ensembl
Outerchr1:112636570..112636627hg38UCSC Ensembl
chr1:113179220..113179221hg19UCSC Ensembl
Innerchr1:113179193..113179248hg19UCSC Ensembl
Outerchr1:113179192..113179249hg19UCSC Ensembl
chr1:112980743..112980744hg18UCSC Ensembl
Innerchr1:112980771..112980716hg18UCSC Ensembl
Outerchr1:112980715..112980772hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381611
hg191611
hg181611
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838370, essv7838127, essv7839028, essv7837275, essv7836893
SamplesNA19239, NA19238, NA12891, NA12878, NA19240
Known GenesCAPZA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310239
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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