A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv712e201



Internal ID22760070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42078206..42078739hg38UCSC Ensembl
chr21:43498315..43498848hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2723522, esv2723520
SamplesSSM065, SSM047, SSM067, SSM044, SSM086, SSM007, SSM015, SSM095, SSM025, SSM049
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)dgv712e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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