A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743079



Internal ID9977363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142748618..142768000hg38UCSC Ensembl
Outerchr7:142456469..142477817hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3819383
hg1921349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1119e201
Supporting Variantsessv6943863
SamplesSSM023
Known GenesPRSS1
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)esv2743079
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