A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730528



Internal ID9964845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1701095..1701849hg38UCSC Ensembl
Outerchr10:1743289..1744043hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948682, essv6838280
SamplesSSM024, SSM083
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)esv2730528
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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