A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14210469



Internal ID1019639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71521100..71539367hg38UCSC Ensembl
chr11:71232146..71250413hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3818268
hg1918268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626779
Supporting Variants
SamplesHG00638
Known GenesKRTAP5-7, KRTAP5-8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14210469
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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