A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837548



Internal ID15081957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173228268..173228269hg38UCSC Ensembl
Innerchr4:173228227..173228310hg38UCSC Ensembl
Outerchr4:173228226..173228311hg38UCSC Ensembl
chr4:174149419..174149420hg19UCSC Ensembl
Innerchr4:174149378..174149461hg19UCSC Ensembl
Outerchr4:174149377..174149462hg19UCSC Ensembl
chr4:174385994..174385995hg18UCSC Ensembl
Innerchr4:174386036..174385953hg18UCSC Ensembl
Outerchr4:174385952..174386037hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307933
Supporting Variants
SamplesNA19240
Known GenesGALNT7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837548
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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