A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694078



Internal ID14694549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4653768..4655566hg38UCSC Ensembl
Innerchr3:4654566..4654768hg38UCSC Ensembl
Outerchr3:4652768..4656566hg38UCSC Ensembl
chr3:4695452..4697250hg19UCSC Ensembl
Innerchr3:4696250..4696452hg19UCSC Ensembl
Outerchr3:4694452..4698250hg19UCSC Ensembl
chr3:4670452..4672250hg18UCSC Ensembl
Innerchr3:4671452..4671250hg18UCSC Ensembl
Outerchr3:4669452..4673250hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444561
Supporting Variants
SamplesNA19239
Known GenesITPR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694078
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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