A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723781



Internal ID9958081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45506929..45507801hg38UCSC Ensembl
Outerchr21:46926843..46927715hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675141, essv6668866, essv6689211, essv6761827, essv6773379
SamplesSSM065, SSM061, SSM035, SSM031, SSM004
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)esv2723781
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