A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6778558



Internal ID9837498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138611659..138612416hg38UCSC Ensembl
Outerchr7:138296404..138297161hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735218, esv2735212
Supporting Variants
SamplesSSM067
Known GenesSVOPL
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)essv6778558
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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