A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599980



Internal ID6987024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26055989..26056698hg38UCSC Ensembl
Innerchr4:26055989..26056698hg38UCSC Ensembl
Outerchr4:26055805..26056871hg38UCSC Ensembl
chr4:26057611..26058320hg19UCSC Ensembl
Innerchr4:26057611..26058320hg19UCSC Ensembl
Outerchr4:26057427..26058493hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11373453, essv11373454, essv11373452, essv11373456, essv11373448, essv11373449, essv11373450, essv11373455, essv11373451
SamplesNA20864, NA20806, HG01459, HG02334, HG01675, HG00117, NA20504, HG00111, HG00381
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599980
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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