A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970802



Internal ID9727759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26802400..26802774hg38UCSC Ensembl
Outerchr12:26955333..26955707hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745660
Supporting Variants
SamplesSSM028
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)essv6970802
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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