A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688181



Internal ID15041135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120874633..120876431hg38UCSC Ensembl
Innerchr11:120875431..120875633hg38UCSC Ensembl
Outerchr11:120873633..120877431hg38UCSC Ensembl
chr11:120745342..120747140hg19UCSC Ensembl
Innerchr11:120746140..120746342hg19UCSC Ensembl
Outerchr11:120744342..120748140hg19UCSC Ensembl
chr11:120250552..120252350hg18UCSC Ensembl
Innerchr11:120251552..120251350hg18UCSC Ensembl
Outerchr11:120249552..120253350hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417008
Supporting Variants
SamplesNA19239
Known GenesGRIK4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688181
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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