A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731471



Internal ID10315107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2907057..2908304hg38UCSC Ensembl
Outerchr6:2907291..2908538hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv986e201
Supporting Variantsessv6860693, essv6687160, essv6798731, essv6754444, essv6896689, essv6802490, essv6751513, essv6956845, essv6956844, essv6947701, essv6687159, essv6855085, essv6930349
SamplesSSM024, SSM087, SSM073, SSM088, SSM057, SSM058, SSM026, SSM035, SSM072, SSM020, SSM099
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)esv2731471
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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