A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628002



Internal ID6668146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126291427..126292444hg38UCSC Ensembl
Innerchr11:126291427..126292444hg38UCSC Ensembl
Outerchr11:126291101..126292765hg38UCSC Ensembl
chr11:126161322..126162339hg19UCSC Ensembl
Innerchr11:126161322..126162339hg19UCSC Ensembl
Outerchr11:126160996..126162660hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14302927, essv14302941, essv14302933, essv14302931, essv14302936, essv14302937, essv14302946, essv14302943, essv14302939, essv14302942, essv14302940, essv14302935, essv14302929, essv14302945, essv14302932, essv14302948, essv14302928, essv14302944, essv14302930, essv14302938, essv14302934, essv14302947
SamplesHG03514, NA19332, HG03126, HG03372, NA20846, HG03572, HG03168, HG01063, HG03189, HG02450, NA18499, NA18593, NA19436, NA19035, NA19206, NA18542, HG01894, HG02317, NA19223, NA20334, HG03063, HG02020
Known GenesTIRAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628002
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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