A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906171



Internal ID9674298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:94477675..94477809hg38UCSC Ensembl
Outerchr1:94943231..94943365hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714951, esv2714962
Supporting Variants
SamplesSSM014
Known GenesABCD3
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)essv6906171
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