A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731335



Internal ID13623600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47686725..47686827hg38UCSC Ensembl
Innerchr1:47686775..47686776hg38UCSC Ensembl
Outerchr1:47686625..47686927hg38UCSC Ensembl
chr1:48152397..48152499hg19UCSC Ensembl
Innerchr1:48152447..48152448hg19UCSC Ensembl
Outerchr1:48152297..48152599hg19UCSC Ensembl
chr1:47924984..47925086hg18UCSC Ensembl
Innerchr1:47925035..47925034hg18UCSC Ensembl
Outerchr1:47924884..47925186hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38103
hg19103
hg18103
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302534
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731335
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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