A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730062



Internal ID9964378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1540197..1540633hg38UCSC Ensembl
Outerchr10:1582392..1582828hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876382, essv6827323
SamplesSSM092, SSM080
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)esv2730062
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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