A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723239



Internal ID10306875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:221205769..221209251hg38UCSC Ensembl
Outerchr1:221379111..221382593hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383483
hg193483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773612, essv6726016
SamplesSSM046, SSM066
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)esv2723239
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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