A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734693



Internal ID10318329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77179937..77180344hg38UCSC Ensembl
Outerchr7:76809254..76809661hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849612, essv6676870, essv6822717, essv6676871
SamplesSSM079, SSM032, SSM086
Known GenesCCDC146
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)esv2734693
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer