A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287959



Internal ID4289775
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627771
Supporting Variants
SamplesHG03673
Known GenesNCAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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