A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733483



Internal ID10317119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:169242438..169243137hg38UCSC Ensembl
Outerchr6:169642533..169643232hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786561, essv6676734
SamplesSSM069, SSM032
Known GenesTHBS2
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)esv2733483
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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