A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955236



Internal ID10064085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27101209..27101692hg38UCSC Ensembl
Outerchr2:27324077..27324560hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719833
Supporting Variants
SamplesSSM026
Known GenesCGREF1
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)essv6955236
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