A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331891



Internal ID15157557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11363238..11363248hg38UCSC Ensembl
Innerchr1:11363240..11363246hg38UCSC Ensembl
Outerchr1:11363236..11363250hg38UCSC Ensembl
chr1:11423295..11423305hg19UCSC Ensembl
Innerchr1:11423297..11423303hg19UCSC Ensembl
Outerchr1:11423293..11423307hg19UCSC Ensembl
chr1:11345882..11345892hg18UCSC Ensembl
Innerchr1:11345884..11345890hg18UCSC Ensembl
Outerchr1:11345880..11345894hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863674
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331891
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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