A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933684



Internal ID10045918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:100668980..100669502hg38UCSC Ensembl
Outerchr2:101285442..101285964hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720444
Supporting Variants
SamplesSSM021
Known Genes
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)essv6933684
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