A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14288067



Internal ID4289883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113969123..113990232hg38UCSC Ensembl
Innerchr11:113969157..113990198hg38UCSC Ensembl
Outerchr11:113969089..113990266hg38UCSC Ensembl
chr11:113839845..113860954hg19UCSC Ensembl
Innerchr11:113839879..113860920hg19UCSC Ensembl
Outerchr11:113839811..113860988hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3821110
hg1921110
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627783
Supporting Variants
SamplesHG01844
Known GenesHTR3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14288067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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