A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719595



Internal ID10303231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6935486..6935906hg38UCSC Ensembl
Outerchr2:7075617..7076037hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955188, essv6929363, essv6886183, essv6832827, essv6707506, essv6853626
SamplesSSM087, SSM041, SSM096, SSM026, SSM082, SSM020
Known GenesRNF144A
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)esv2719595
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer