A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627771



Internal ID6667918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113000227..113003508hg38UCSC Ensembl
Innerchr11:113000227..113003508hg38UCSC Ensembl
Outerchr11:113000006..113003778hg38UCSC Ensembl
chr11:112870949..112874230hg19UCSC Ensembl
Innerchr11:112870949..112874230hg19UCSC Ensembl
Outerchr11:112870728..112874500hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383282
hg193282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14287959, essv14287958, essv14287963, essv14287962, essv14287961, essv14287960
SamplesHG03698, HG04238, HG03917, HG03673, HG04062, HG03490
Known GenesNCAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627771
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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