A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14288004



Internal ID4289820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113116657..113119236hg38UCSC Ensembl
Innerchr11:113116657..113119236hg38UCSC Ensembl
Outerchr11:113116394..113119521hg38UCSC Ensembl
chr11:112987379..112989958hg19UCSC Ensembl
Innerchr11:112987379..112989958hg19UCSC Ensembl
Outerchr11:112987116..112990243hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg382580
hg192580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627774
Supporting Variants
SamplesNA19146
Known GenesNCAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14288004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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