A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732018



Internal ID10315654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44835315..44835668hg38UCSC Ensembl
Outerchr6:44803052..44803405hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951920, essv6957023, essv6774604, essv6701092, essv6943448, essv6849145
SamplesSSM039, SSM023, SSM026, SSM086, SSM066, SSM025
Known GenesSUPT3H
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)esv2732018
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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