A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14305129



Internal ID4512017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127135928..127142134hg38UCSC Ensembl
Innerchr11:127135928..127142134hg38UCSC Ensembl
Outerchr11:127135694..127142197hg38UCSC Ensembl
chr11:127005823..127012029hg19UCSC Ensembl
Innerchr11:127005823..127012029hg19UCSC Ensembl
Outerchr11:127005589..127012092hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg386207
hg196207
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628018
Supporting Variants
SamplesHG04014
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14305129
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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