A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723516



Internal ID10307152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42078005..42078484hg38UCSC Ensembl
Outerchr21:43498114..43498593hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895775, essv6972199, essv6780760, essv6961375, essv6735941, essv6954599
SamplesSSM028, SSM026, SSM067, SSM025, SSM098, 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)esv2723516
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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