A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631382



Internal ID7018191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19177537..19197238hg38UCSC Ensembl
Innerchr13:19177560..19197216hg38UCSC Ensembl
Outerchr13:19177515..19197261hg38UCSC Ensembl
chr13:19751677..19771378hg19UCSC Ensembl
Innerchr13:19751700..19771356hg19UCSC Ensembl
Outerchr13:19751655..19771401hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3819702
hg1919702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14656699, essv14656701, essv14656700, essv14656702
SamplesHG03680, NA19917, HG03871, HG03940
Known GenesTUBA3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631382
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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