A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625549



Internal ID7012383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19982013..19983809hg38UCSC Ensembl
Innerchr11:19982029..19983794hg38UCSC Ensembl
Outerchr11:19981998..19983825hg38UCSC Ensembl
chr11:20003559..20005355hg19UCSC Ensembl
Innerchr11:20003575..20005340hg19UCSC Ensembl
Outerchr11:20003544..20005371hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381797
hg191797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14047174, essv14047167, essv14047171, essv14047170, essv14047162, essv14047163, essv14047175, essv14047168, essv14047164, essv14047165, essv14047169, essv14047166, essv14047172, essv14047173
SamplesHG02688, HG03705, HG03640, HG03943, HG04183, NA20869, HG03718, HG03006, HG04176, HG04216, HG04026, HG04161, HG03867, HG03989
Known GenesNAV2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625549
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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