A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731990



Internal ID10315626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:42602025..42602081hg38UCSC Ensembl
Outerchr6:42569763..42569819hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855237
SamplesSSM087
Known GenesUBR2
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)esv2731990
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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