A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694502



Internal ID15082888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7639325..7640723hg38UCSC Ensembl
Innerchr4:7639723..7640325hg38UCSC Ensembl
Outerchr4:7638325..7641723hg38UCSC Ensembl
chr4:7641052..7642450hg19UCSC Ensembl
Innerchr4:7641450..7642052hg19UCSC Ensembl
Outerchr4:7640052..7643450hg19UCSC Ensembl
chr4:7691952..7693350hg18UCSC Ensembl
Innerchr4:7692952..7692350hg18UCSC Ensembl
Outerchr4:7690952..7694350hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427504
Supporting Variants
SamplesNA19240
Known GenesSORCS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694502
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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