A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6763150



Internal ID9822770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1541688..1542776hg38UCSC Ensembl
Outerchr10:1583883..1584971hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741564
Supporting Variants
SamplesSSM062
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)essv6763150
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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