A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730484



Internal ID9964800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1674804..1675307hg38UCSC Ensembl
Outerchr10:1716998..1717501hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919776, essv6672548, essv6976437
SamplesSSM031, SSM017, SSM029
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)esv2730484
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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