A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730073



Internal ID9964389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1540506..1540629hg38UCSC Ensembl
Outerchr10:1582701..1582824hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827323
SamplesSSM080
Known GenesADARB2, ADARB2-AS1
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)esv2730073
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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