A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733123



Internal ID10316759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163593829..163594294hg38UCSC Ensembl
Outerchr6:164014861..164015326hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845073, essv6748858, essv6740111, essv6751707, essv6818402, essv6964483, essv6770937, essv6754667, essv6765110, essv6796743, essv6760152, essv6855423, essv6667641, essv6899487
SamplesSSM065, SSM087, SSM009, SSM002, SSM057, SSM058, SSM061, SSM001, SSM085, SSM078, SSM052, SSM056, SSM030, 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)esv2733123
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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