A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6845243



Internal ID9897515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140035784..140036238hg38UCSC Ensembl
Outerchr7:139735584..139736038hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212, esv2735237
Supporting Variants
SamplesSSM085
Known GenesPARP12
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)essv6845243
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