A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731859



Internal ID10315495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32625560..32626929hg38UCSC Ensembl
Outerchr6:32593337..32594706hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381370
hg191370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765009, essv6974756, essv6790504, essv6837425, essv6903717, essv6802567, essv6694151, essv6715517, essv6887009, essv6939005, essv6739967, essv6786393, essv6719423, essv6890222, essv6893526, essv6754527, essv6878626, essv6855131
SamplesSSM083, SSM011, SSM097, SSM013, SSM073, SSM093, SSM058, SSM069, SSM029, SSM096, SSM044, SSM037, SSM022, SSM070, SSM043, SSM052, SSM098, SSM063
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)esv2731859
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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