A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722951



Internal ID10306587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:217909312..217909547hg38UCSC Ensembl
Outerchr1:218082654..218082889hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825155, essv6682970, essv6864161, essv6906272
SamplesSSM089, SSM014, SSM080, SSM034
Known GenesLINC00210
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)esv2722951
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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