A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730350



Internal ID9964666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1602482..1602689hg38UCSC Ensembl
Outerchr10:1644677..1644884hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv82e201
Supporting Variantsessv6919775, essv6842086, essv6830962
SamplesSSM084, SSM017, SSM081
Known GenesADARB2
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)esv2730350
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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