A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827768



Internal ID10228473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101340937..101341061hg38UCSC Ensembl
Outerchr12:101734715..101734839hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746278
Supporting Variants
SamplesSSM080
Known GenesUTP20
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)essv6827768
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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