A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302504



Internal ID15149451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125824764..125825184hg38UCSC Ensembl
Innerchr10:125824864..125825084hg38UCSC Ensembl
Outerchr10:125824664..125825284hg38UCSC Ensembl
chr10:127513333..127513753hg19UCSC Ensembl
Innerchr10:127513433..127513653hg19UCSC Ensembl
Outerchr10:127513233..127513853hg19UCSC Ensembl
chr10:127503323..127503743hg18UCSC Ensembl
Innerchr10:127503423..127503643hg18UCSC Ensembl
Outerchr10:127503223..127503843hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38421
hg19421
hg18421
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv520e59
Supporting Variantsessv7731009, essv7731453, essv7731305
SamplesNA19239, NA12878, NA12892
Known GenesBCCIP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302504
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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