A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722851



Internal ID9957151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:217096380..217096907hg38UCSC Ensembl
Outerchr1:217269722..217270249hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853483, essv6917604, essv6918129, essv6961804, essv6769692, essv6804547
SamplesSSM027, SSM065, SSM087, SSM074, SSM017, SSM003
Known GenesESRRG
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)esv2722851
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