A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714829



Internal ID9949114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92215691..92215895hg38UCSC Ensembl
Outerchr1:92681248..92681452hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954860, essv6853344, essv6906169, essv6914054, essv6773508
SamplesSSM087, SSM026, SSM014, SSM066, SSM016
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)esv2714829
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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