A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876382



Internal ID9925538
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 StatusS
Merged Variantsesv2730062
Supporting Variants
SamplesSSM092
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)essv6876382
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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