A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723442



Internal ID10307078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39974238..39974712hg38UCSC Ensembl
Outerchr21:41346165..41346639hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696919, essv6839863, essv6836072, essv6913901, essv6729522, essv6961361, essv6797340, essv6703755, essv6967790, essv6686085, essv6928970, essv6972191, essv6773345, essv6824872, essv6675093, essv6801536, essv6682755, essv6721894, essv6888937, essv6666811, essv6941676, essv6780749, essv6917332, essv6718063
SamplesSSM083, SSM071, SSM027, SSM046, SSM079, SSM065, SSM039, SSM028, SSM029, SSM096, SSM026, SSM019, SSM031, SSM067, SSM044, SSM033, SSM072, SSM082, SSM015, SSM016, SSM037, SSM022, SSM034, SSM043
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)esv2723442
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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