A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731429



Internal ID10315065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1441449..1441627hg38UCSC Ensembl
Outerchr6:1441684..1441862hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv981e201
Supporting Variantsessv6890111, essv6818081, essv6865459, essv6676443, essv6826278, essv6708316, essv6956835
SamplesSSM097, SSM041, SSM026, SSM089, SSM032, SSM078, SSM080
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)esv2731429
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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