A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631933



Internal ID7018743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44254436..44261718hg38UCSC Ensembl
Innerchr13:44254442..44261713hg38UCSC Ensembl
Outerchr13:44254431..44261724hg38UCSC Ensembl
chr13:44828572..44835854hg19UCSC Ensembl
Innerchr13:44828578..44835849hg19UCSC Ensembl
Outerchr13:44828567..44835860hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg387283
hg197283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710319, essv14710315, essv14710317, essv14710320, essv14710316, essv14710318
SamplesHG00306, NA21129, HG04019, HG03781, HG03730, NA20901
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631933
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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