A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729295



Internal ID10312931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1010901..1011329hg38UCSC Ensembl
Outerchr10:1056841..1057269hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897362, essv6965154, essv6819229
SamplesSSM027, SSM078, SSM099
Known GenesGTPBP4
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)esv2729295
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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