A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440894



Internal ID14941161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76102646..76102665hg38UCSC Ensembl
Innerchr4:76102642..76102669hg38UCSC Ensembl
Outerchr4:76102623..76102688hg38UCSC Ensembl
chr4:77023799..77023818hg19UCSC Ensembl
Innerchr4:77023795..77023822hg19UCSC Ensembl
Outerchr4:77023776..77023841hg19UCSC Ensembl
chr4:77242823..77242842hg18UCSC Ensembl
Innerchr4:77242846..77242819hg18UCSC Ensembl
Outerchr4:77242800..77242865hg18UCSC 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 Variantsessv9616279, essv9616268
SamplesNA12815, NA07346
Known GenesART3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440894
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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