A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746026



Internal ID10326996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70733302..70733614hg38UCSC Ensembl
Outerchr12:71127082..71127394hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685119, essv6823661, essv6912635, essv6827735, essv6977244
SamplesSSM079, SSM029, SSM015, SSM080, SSM034
Known GenesPTPRR
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)esv2746026
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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