A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604634



Internal ID6991662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33119560..33128809hg38UCSC Ensembl
Innerchr5:33119605..33128764hg38UCSC Ensembl
Outerchr5:33119515..33128854hg38UCSC Ensembl
chr5:33119666..33128915hg19UCSC Ensembl
Innerchr5:33119711..33128870hg19UCSC Ensembl
Outerchr5:33119621..33128960hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg389250
hg199250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11859305, essv11859306
SamplesHG01250, HG03619
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604634
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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