A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731470



Internal ID10315106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2853460..2853899hg38UCSC Ensembl
Outerchr6:2853694..2854133hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754442, essv6947700, essv6854587, essv6963569, essv6739888, essv6805324, essv6825120
SamplesSSM027, SSM024, SSM011, SSM074, SSM058, SSM010, SSM052
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)esv2731470
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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