A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433677



Internal ID14933946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76072660..76072679hg38UCSC Ensembl
Innerchr4:76072656..76072683hg38UCSC Ensembl
Outerchr4:76072637..76072702hg38UCSC Ensembl
chr4:76993813..76993832hg19UCSC Ensembl
Innerchr4:76993809..76993836hg19UCSC Ensembl
Outerchr4:76993790..76993855hg19UCSC Ensembl
chr4:77212837..77212856hg18UCSC Ensembl
Innerchr4:77212860..77212833hg18UCSC Ensembl
Outerchr4:77212814..77212879hg18UCSC Ensembl
Cytoband4q21.1
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 Variantsessv8678896
SamplesNA12878
Known GenesART3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433677
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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