A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6917756



Internal ID10028258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:61881428..61882228hg38UCSC Ensembl
Outerchr2:62108563..62109363hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720131
Supporting Variants
SamplesSSM017
Known GenesCCT4
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)essv6917756
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