A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625079



Internal ID6665232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:749186..753177hg38UCSC Ensembl
Innerchr11:749336..753027hg38UCSC Ensembl
Outerchr11:749036..753327hg38UCSC Ensembl
chr11:749186..753177hg19UCSC Ensembl
Innerchr11:749336..753027hg19UCSC Ensembl
Outerchr11:749036..753327hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383992
hg193992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13992139, essv13992142, essv13992140, essv13992138, essv13992141
SamplesHG00452, NA19057, NA18609, NA18637, NA18974
Known GenesTALDO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625079
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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