A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601148



Internal ID6641406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:81132731..81133810hg38UCSC Ensembl
Innerchr4:81132764..81133778hg38UCSC Ensembl
Outerchr4:81132699..81133843hg38UCSC Ensembl
chr4:82053885..82054964hg19UCSC Ensembl
Innerchr4:82053918..82054932hg19UCSC Ensembl
Outerchr4:82053853..82054997hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11517478, essv11517479, essv11517481, essv11517477, essv11517474, essv11517480, essv11517475, essv11517482, essv11517476
SamplesHG02330, NA19114, HG03394, HG03572, HG02588, HG03559, HG02143, HG02768, HG02611
Known GenesPRKG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601148
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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