A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601592



Internal ID6641847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101235318..101237194hg38UCSC Ensembl
Innerchr4:101235341..101237172hg38UCSC Ensembl
Outerchr4:101235296..101237217hg38UCSC Ensembl
chr4:102156475..102158351hg19UCSC Ensembl
Innerchr4:102156498..102158329hg19UCSC Ensembl
Outerchr4:102156453..102158374hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381877
hg191877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11544864
SamplesNA19083
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601592
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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