A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14223505



Internal ID6253806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86986234..86995926hg38UCSC Ensembl
Innerchr11:86986734..86995426hg38UCSC Ensembl
Outerchr11:86985234..86996926hg38UCSC Ensembl
chr11:86697276..86706968hg19UCSC Ensembl
Innerchr11:86697776..86706468hg19UCSC Ensembl
Outerchr11:86696276..86707968hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg389693
hg199693
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627111
Supporting Variants
SamplesNA19777
Known GenesLOC100506368
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14223505
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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