A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731475



Internal ID10315111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2907165..2908164hg38UCSC Ensembl
Outerchr6:2907399..2908398hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv986e201
Supporting Variantsessv6860693, essv6798731, essv6802490, essv6751513, essv6956845, essv6956844, essv6947701, essv6687159
SamplesSSM024, SSM073, SSM088, SSM057, SSM026, SSM035, SSM072
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)esv2731475
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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