A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14103228



Internal ID6565479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:40459372..40521448hg38UCSC Ensembl
Innerchr11:40459372..40521448hg38UCSC Ensembl
Outerchr11:40458872..40521948hg38UCSC Ensembl
chr11:40480922..40542998hg19UCSC Ensembl
Innerchr11:40480922..40542998hg19UCSC Ensembl
Outerchr11:40480422..40543498hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3862077
hg1962077
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626064
Supporting Variants
SamplesNA20758
Known GenesLRRC4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14103228
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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