A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631430



Internal ID7018239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20400811..20403921hg38UCSC Ensembl
Innerchr13:20400811..20403921hg38UCSC Ensembl
Outerchr13:20400472..20404002hg38UCSC Ensembl
chr13:20974950..20978060hg19UCSC Ensembl
Innerchr13:20974950..20978060hg19UCSC Ensembl
Outerchr13:20974611..20978141hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg383111
hg193111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14658368, essv14658371, essv14658370, essv14658369, essv14658367, essv14658366
SamplesHG03793, HG03814, HG03832, HG03900, HG03733, HG02774
Known GenesCRYL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631430
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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