A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415675



Internal ID15262634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45893259..45893274hg38UCSC Ensembl
Innerchr11:45893260..45893273hg38UCSC Ensembl
Outerchr11:45893245..45893288hg38UCSC Ensembl
chr11:45914810..45914825hg19UCSC Ensembl
Innerchr11:45914811..45914824hg19UCSC Ensembl
Outerchr11:45914796..45914839hg19UCSC Ensembl
chr11:45871386..45871401hg18UCSC Ensembl
Innerchr11:45871400..45871387hg18UCSC Ensembl
Outerchr11:45871372..45871415hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38162
hg19162
hg18162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672110
SamplesNA19239
Known GenesMAPK8IP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415675
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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