A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734808



Internal ID10318444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:90290603..90290997hg38UCSC Ensembl
Outerchr7:89919917..89920311hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771116, essv6687515
SamplesSSM065, SSM035
Known GenesC7orf63
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)esv2734808
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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