A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732961



Internal ID10316597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:156178725..156178924hg38UCSC Ensembl
Outerchr6:156499859..156500058hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1025e201
Supporting Variantsessv6790617, essv6963924, essv6794775, essv6887107, essv6861013, essv6802669
SamplesSSM071, SSM027, SSM073, SSM088, SSM096, SSM070
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)esv2732961
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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