A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691744



Internal ID14717691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109251207..109253305hg38UCSC Ensembl
Innerchr1:109252207..109252305hg38UCSC Ensembl
Outerchr1:109250207..109254305hg38UCSC Ensembl
chr1:109793829..109795927hg19UCSC Ensembl
Innerchr1:109794829..109794927hg19UCSC Ensembl
Outerchr1:109792829..109796927hg19UCSC Ensembl
chr1:109595352..109597450hg18UCSC Ensembl
Innerchr1:109596352..109596450hg18UCSC Ensembl
Outerchr1:109594352..109598450hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444646
Supporting Variants
SamplesNA19239
Known GenesCELSR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691744
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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