A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1230e201



Internal ID22760588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142203117..142203921hg38UCSC Ensembl
chr8:143284478..143285282hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2737846, esv2737844
SamplesSSM008, SSM083, SSM071, SSM027, SSM045, SSM046, SSM079, SSM039, SSM042, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM026, SSM017, SSM031, SSM067, SSM086, SSM066, SSM081, SSM072, SSM020, SSM015, SSM080, SSM077, SSM022, SSM070, SSM025, SSM034, SSM043, SSM030
Known GenesLINC00051
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)dgv1230e201
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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