A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723779



Internal ID9958079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45506626..45507046hg38UCSC Ensembl
Outerchr21:46926540..46926960hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv721e201
Supporting Variantsessv6967843, essv6883214, essv6828940, essv6836106
SamplesSSM027, SSM094, SSM082, SSM080
Known GenesCOL18A1
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)esv2723779
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