A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214128



Internal ID6318314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76396630..76400396hg38UCSC Ensembl
Innerchr11:76396680..76400347hg38UCSC Ensembl
Outerchr11:76396581..76400446hg38UCSC Ensembl
chr11:76107674..76111440hg19UCSC Ensembl
Innerchr11:76107724..76111391hg19UCSC Ensembl
Outerchr11:76107625..76111490hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg383767
hg193767
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626869
Supporting Variants
SamplesNA19917
Known GenesLOC100506127
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214128
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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