A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627060



Internal ID7013890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85344878..85349944hg38UCSC Ensembl
Innerchr11:85344878..85349944hg38UCSC Ensembl
Outerchr11:85344634..85350181hg38UCSC Ensembl
chr11:85055922..85060988hg19UCSC Ensembl
Innerchr11:85055922..85060988hg19UCSC Ensembl
Outerchr11:85055678..85061225hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg385067
hg195067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14221285, essv14221291, essv14221294, essv14221283, essv14221281, essv14221292, essv14221286, essv14221293, essv14221288, essv14221287, essv14221279, essv14221284, essv14221290, essv14221280, essv14221282, essv14221289, essv14221278, essv14221277
SamplesNA19399, HG02624, NA20346, HG02769, HG03478, NA20317, NA19189, NA20318, HG03117, NA19380, HG02314, HG03259, HG03469, HG02771, NA19438, HG03060, HG03538, NA18522
Known GenesDLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627060
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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