A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976455



Internal ID9734974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3168440..3168632hg38UCSC Ensembl
Outerchr10:3210632..3210824hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730995
Supporting Variants
SamplesSSM029
Known GenesPITRM1
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)essv6976455
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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