A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv848e201



Internal ID22760206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109875527..109875950hg38UCSC Ensembl
chr4:110796683..110797106hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2728132, esv2728134
SamplesSSM084, SSM082, SSM022, SSM098
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv848e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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