A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694195



Internal ID15042101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108397047..108398245hg38UCSC Ensembl
Innerchr4:108397245..108398047hg38UCSC Ensembl
Outerchr4:108396047..108399245hg38UCSC Ensembl
chr4:109318203..109319401hg19UCSC Ensembl
Innerchr4:109318401..109319203hg19UCSC Ensembl
Outerchr4:109317203..109320401hg19UCSC Ensembl
chr4:109537652..109538850hg18UCSC Ensembl
Innerchr4:109538652..109537850hg18UCSC Ensembl
Outerchr4:109536652..109539850hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451118
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694195
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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