A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv849e201



Internal ID22760207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:132444309..132444478hg38UCSC Ensembl
chr4:133365464..133365633hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2728340, esv2728338
SamplesSSM027, SSM087, SSM097, SSM026, SSM031
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)dgv849e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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