A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733349



Internal ID10316985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168317758..168317983hg38UCSC Ensembl
Outerchr6:168718438..168718663hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1042e201
Supporting Variantsessv6808552, essv6719584, essv6708571, essv6841400, essv6856331, essv6849361, essv6694330, essv6963976, essv6943604, essv6676726, essv6701259, essv6975056, essv6957267, essv6690612, essv6822582
SamplesSSM036, SSM027, SSM075, SSM011, SSM079, SSM039, SSM041, SSM023, SSM084, SSM029, SSM026, SSM032, SSM044, SSM086, SSM037
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)esv2733349
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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