A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731427



Internal ID10315063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1441446..1441579hg38UCSC Ensembl
Outerchr6:1441681..1441814hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv981e201
Supporting Variantsessv6818081, essv6708316, essv6963558, essv6956835
SamplesSSM027, SSM041, SSM026, SSM078
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)esv2731427
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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