A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738168



Internal ID10321804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:6276202..6276541hg38UCSC Ensembl
Outerchr9:6276202..6276541hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1252e201
Supporting Variantsessv6861751, essv6683943, essv6677295, essv6823116, essv6870358, essv6866481, essv6720192, essv6908341, essv6879126, essv6831231, essv6881956, essv6778942, essv6887604, essv6834434, essv6923770, essv6694989, essv6698407, essv6805991, essv6701884, essv6827172, essv6905251, essv6939799, essv6672291, essv6684637, essv6900248, essv6723979
SamplesSSM100, SSM045, SSM079, SSM038, SSM039, SSM093, SSM074, SSM088, SSM002, SSM090, SSM018, SSM096, SSM089, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM082, SSM005, SSM080, SSM037, SSM022, SSM010, SSM034
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)esv2738168
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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