A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293184



Internal ID4295000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118215884..118218488hg38UCSC Ensembl
Innerchr11:118215889..118218484hg38UCSC Ensembl
Outerchr11:118215880..118218493hg38UCSC Ensembl
chr11:118086599..118089203hg19UCSC Ensembl
Innerchr11:118086604..118089199hg19UCSC Ensembl
Outerchr11:118086595..118089208hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382605
hg192605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627867
Supporting Variants
SamplesNA19323
Known GenesAMICA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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