A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742682



Internal ID9976966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142748739..142768000hg38UCSC Ensembl
Outerchr7:142456590..142478237hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3819262
hg1921648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1119e201
Supporting Variantsessv6904068
SamplesSSM013
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)esv2742682
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