A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332178



Internal ID14832452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40059005..40059024hg38UCSC Ensembl
Innerchr1:40059001..40059028hg38UCSC Ensembl
Outerchr1:40058982..40059047hg38UCSC Ensembl
chr1:40524677..40524696hg19UCSC Ensembl
Innerchr1:40524673..40524700hg19UCSC Ensembl
Outerchr1:40524654..40524719hg19UCSC Ensembl
chr1:40297264..40297283hg18UCSC Ensembl
Innerchr1:40297287..40297260hg18UCSC Ensembl
Outerchr1:40297241..40297306hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9594002, essv9593990
SamplesNA18970, NA19141
Known GenesCAP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332178
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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