A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751830



Internal ID9813062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76495865..76994163hg38UCSC Ensembl
Outerchr7:76125182..76623480hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38498299
hg19498299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734687
Supporting Variants
SamplesSSM057
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
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)essv6751830
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