A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694197



Internal ID15080028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108397047..108398645hg38UCSC Ensembl
Innerchr4:108397645..108398047hg38UCSC Ensembl
Outerchr4:108396047..108399645hg38UCSC Ensembl
chr4:109318203..109319801hg19UCSC Ensembl
Innerchr4:109318801..109319203hg19UCSC Ensembl
Outerchr4:109317203..109320801hg19UCSC Ensembl
chr4:109537652..109539250hg18UCSC Ensembl
Innerchr4:109538652..109538250hg18UCSC Ensembl
Outerchr4:109536652..109540250hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429884
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694197
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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