A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6798575



Internal ID10005772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142309931..142343592hg38UCSC Ensembl
Outerchr7:142009754..142043422hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3833662
hg1933669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735257
Supporting Variants
SamplesSSM009
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)essv6798575
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