A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730051



Internal ID9964367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1529062..1529288hg38UCSC Ensembl
Outerchr10:1571257..1571483hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965167, essv6866664, essv6702049, essv6709196, essv6958624, essv6894334
SamplesSSM027, SSM039, SSM041, SSM026, SSM089, SSM098
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)esv2730051
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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