A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694504



Internal ID14698365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76309275..76310773hg38UCSC Ensembl
Innerchr4:76309773..76310275hg38UCSC Ensembl
Outerchr4:76308275..76311773hg38UCSC Ensembl
chr4:77230428..77231926hg19UCSC Ensembl
Innerchr4:77230926..77231428hg19UCSC Ensembl
Outerchr4:77229428..77232926hg19UCSC Ensembl
chr4:77449452..77450950hg18UCSC Ensembl
Innerchr4:77450452..77449950hg18UCSC Ensembl
Outerchr4:77448452..77451950hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390912
Supporting Variants
SamplesNA19239
Known GenesFAM47E-STBD1, STBD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694504
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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