A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723526



Internal ID10307162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42137391..42138187hg38UCSC Ensembl
Outerchr21:43557501..43558297hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747727, essv6836082, essv6692672, essv6789035, essv6784886, essv6913914, essv6853110, essv6699528, essv6937576, essv6821093, essv6744892, essv6703762, essv6696933, essv6909975, essv6750548, essv6877617, essv6776836, essv6902445, essv6725748, essv6972200, essv6797348, essv6804347, essv6747754
SamplesSSM036, SSM071, SSM045, SSM038, SSM039, SSM073, SSM028, SSM092, SSM021, SSM069, SSM014, SSM086, SSM066, SSM068, SSM082, SSM007, SSM015, SSM078, SSM053, SSM037, SSM055, SSM056, SSM012
Known GenesUMODL1
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)esv2723526
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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