A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425528



Internal ID15272485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124737844..124737863hg38UCSC Ensembl
Innerchr4:124737840..124737867hg38UCSC Ensembl
Outerchr4:124737821..124737886hg38UCSC Ensembl
chr4:125658999..125659018hg19UCSC Ensembl
Innerchr4:125658995..125659022hg19UCSC Ensembl
Outerchr4:125658976..125659041hg19UCSC Ensembl
chr4:125878449..125878468hg18UCSC Ensembl
Innerchr4:125878472..125878445hg18UCSC Ensembl
Outerchr4:125878426..125878491hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9617879, essv9617913, essv9617924, essv9617902, essv9617857, essv9617868, essv9617891, essv9617935
SamplesNA19141, NA12814, NA07346, NA12287, NA12872, NA12043, NA12873, NA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425528
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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