A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734961



Internal ID9969291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:29594245..29594440hg38UCSC Ensembl
Outerchr10:29883174..29883369hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904611, essv6787422, essv6716453, essv6799878, essv6958713, essv6779140, essv6887759, essv6672626
SamplesSSM013, SSM043, SSM031, SSM072, SSM067, SSM069, SSM096, SSM026
Known GenesSVIL
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)esv2734961
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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