A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418946



Internal ID14919218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1537609..1538607hg38UCSC Ensembl
Innerchr1:1537608..1538608hg38UCSC Ensembl
Outerchr1:1536609..1539607hg38UCSC Ensembl
chr1:1472989..1473987hg19UCSC Ensembl
Innerchr1:1472988..1473988hg19UCSC Ensembl
Outerchr1:1471989..1474987hg19UCSC Ensembl
chr1:1462852..1463850hg18UCSC Ensembl
Innerchr1:1463851..1462851hg18UCSC Ensembl
Outerchr1:1461852..1464850hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691939
SamplesNA19239
Known GenesTMEM240
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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