A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723777



Internal ID9958077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45506486..45507080hg38UCSC Ensembl
Outerchr21:46926400..46926994hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv721e201
Supporting Variantsessv6776857, essv6710534, essv6967843, essv6843835, essv6883214, essv6828940, essv6937604, essv6721930, essv6718094, essv6933234, essv6675140, essv6836106, essv6696953, essv6725777
SamplesSSM027, SSM045, SSM041, SSM084, SSM021, SSM094, SSM031, SSM044, SSM066, SSM082, SSM020, SSM080, SSM037, SSM043
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)esv2723777
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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