A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602127



Internal ID6989161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:126512808..126567642hg38UCSC Ensembl
Innerchr4:126512808..126567642hg38UCSC Ensembl
Outerchr4:126512308..126568142hg38UCSC Ensembl
chr4:127433963..127488797hg19UCSC Ensembl
Innerchr4:127433963..127488797hg19UCSC Ensembl
Outerchr4:127433463..127489297hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3854835
hg1954835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11595800, essv11595799
SamplesHG01859, NA19321
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602127
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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