A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750934



Internal ID9814411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201685066..201685529hg38UCSC Ensembl
Outerchr2:202549789..202550252hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721366
Supporting Variants
SamplesSSM057
Known GenesMPP4
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)essv6750934
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