A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723502



Internal ID9957802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41806048..41806365hg38UCSC Ensembl
Outerchr21:43226208..43226525hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv710e201
Supporting Variantsessv6874641, essv6725747, essv6821087, essv6710512, essv6729526, essv6961371, essv6813108, essv6675104, essv6883201, essv6868649, essv6679063, essv6853106, essv6668677, essv6863852, essv6876086, essv6836078
SamplesSSM082, SSM086, SSM091, SSM078, SSM088, SSM089, SSM031, SSM032, SSM045, SSM094, SSM041, SSM011, SSM046, SSM004, SSM026, SSM076
Known GenesPRDM15
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)esv2723502
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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