A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733338



Internal ID10316974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168315743..168316663hg38UCSC Ensembl
Outerchr6:168716423..168717343hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827198, essv6911489, essv6952055, essv6680533, essv6881536, essv6737090, essv6899816, essv6770969, essv6808550, essv6701258, essv6855448, essv6671360, essv6923220, essv6969531, essv6774723, essv6679955, essv6918993, essv6805562, essv6849359, essv6748872, essv6872891, essv6975054, essv6751725, essv6704765, essv6962629, essv6965372, essv6802684, essv6765127, essv6957265, essv6861040
SamplesSSM100, SSM075, SSM065, SSM087, SSM039, SSM073, SSM050, SSM074, SSM088, SSM057, SSM028, SSM018, SSM029, SSM026, SSM017, SSM094, SSM031, SSM001, SSM086, SSM033, SSM066, SSM006, SSM015, SSM005, SSM010, SSM091, SSM025, SSM004, SSM056, SSM063
Known GenesDACT2
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)esv2733338
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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