A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734319



Internal ID10317955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43834688..43835220hg38UCSC Ensembl
Outerchr7:43874287..43874819hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855604, essv6754741, essv6919108
SamplesSSM087, SSM058, SSM017
Known Genes
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)esv2734319
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