A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803508



Internal ID9859287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26358112..26358427hg38UCSC Ensembl
Outerchr12:26511045..26511360hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745657
Supporting Variants
SamplesSSM073
Known GenesITPR2
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)essv6803508
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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