A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv806e201



Internal ID20125693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2442737..2443166hg38UCSC Ensembl
chr4:2444464..2444893hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2726847, esv2726849
SamplesSSM027, SSM011, SSM065, SSM074, SSM042, SSM028, SSM084, SSM018, SSM069, SSM026, SSM017, SSM031, SSM081, SSM072
Known GenesLOC402160
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)dgv806e201
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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