A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732773



Internal ID10316409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138626588..138626921hg38UCSC Ensembl
Outerchr6:138947725..138948058hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890312, essv6947904, essv6786496, essv6687336, essv6881513, essv6855379, essv6849289, essv6698002, essv6774673, essv6711934, essv6701193, essv6974955, essv6860992, essv6837530, essv6794760, essv6671260, essv6723326, essv6708526, essv6770915, essv6957173, essv6811411, essv6684088, essv6814422, essv6856020, essv6818361, essv6826515, essv6887095
SamplesSSM083, SSM071, SSM024, SSM045, SSM011, SSM065, SSM087, SSM038, SSM097, SSM039, SSM042, SSM088, SSM041, SSM069, SSM029, SSM096, SSM026, SSM035, SSM094, SSM031, SSM086, SSM066, SSM078, SSM080, SSM077, SSM076, 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)esv2732773
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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