A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380455



Internal ID14880728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126436947..126438245hg38UCSC Ensembl
Innerchr11:126437245..126437947hg38UCSC Ensembl
Outerchr11:126435947..126439245hg38UCSC Ensembl
chr11:126306842..126308140hg19UCSC Ensembl
Innerchr11:126307140..126307842hg19UCSC Ensembl
Outerchr11:126305842..126309140hg19UCSC Ensembl
chr11:125812052..125813350hg18UCSC Ensembl
Innerchr11:125813052..125812350hg18UCSC Ensembl
Outerchr11:125811052..125814350hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv716e59
Supporting Variantsessv8688197
SamplesNA19239
Known GenesKIRREL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380455
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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