A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723659



Internal ID9957959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44443317..44443641hg38UCSC Ensembl
Outerchr21:45863200..45863524hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675124, essv6686103, essv6682772, essv6733430, essv6776846, essv6946411, essv6853126
SamplesSSM023, SSM047, SSM031, SSM086, SSM033, SSM066, SSM034
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)esv2723659
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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