A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633362



Internal ID7020171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101386641..101391787hg38UCSC Ensembl
Innerchr13:101386641..101391787hg38UCSC Ensembl
Outerchr13:101386141..101392287hg38UCSC Ensembl
chr13:102038992..102044138hg19UCSC Ensembl
Innerchr13:102038992..102044138hg19UCSC Ensembl
Outerchr13:102038492..102044638hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg385147
hg195147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14879601, essv14879606, essv14879604, essv14879603, essv14879605, essv14879602
SamplesHG03943, NA20904, NA20867, NA21124, HG03790, HG03702
Known GenesNALCN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633362
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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