A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732813



Internal ID10316449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142840300..142840371hg38UCSC Ensembl
Outerchr6:143161437..143161508hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1021e201
Supporting Variantsessv6855384, essv6860999
SamplesSSM087, SSM088
Known GenesHIVEP2
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)esv2732813
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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