A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8824118



Internal ID13288458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3136888..3136888hg38UCSC Ensembl
Innerchr1:3136887..3136889hg38UCSC Ensembl
Outerchr1:3136828..3136938hg38UCSC Ensembl
chr1:3053452..3053452hg19UCSC Ensembl
Innerchr1:3053451..3053453hg19UCSC Ensembl
Outerchr1:3053392..3053502hg19UCSC Ensembl
chr1:3043312..3043312hg18UCSC Ensembl
Innerchr1:3043313..3043311hg18UCSC Ensembl
Outerchr1:3043252..3043362hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3363327
Supporting Variants
SamplesNA12878
Known GenesPRDM16
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8824118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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