A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293166



Internal ID4294982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118139344..118144877hg38UCSC Ensembl
Innerchr11:118139344..118144877hg38UCSC Ensembl
Outerchr11:118138844..118145377hg38UCSC Ensembl
chr11:118010059..118015592hg19UCSC Ensembl
Innerchr11:118010059..118015592hg19UCSC Ensembl
Outerchr11:118009559..118016092hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385534
hg195534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627864
Supporting Variants
SamplesHG01097
Known GenesSCN4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293166
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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