A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745460



Internal ID10326430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5211985..5212188hg38UCSC Ensembl
Outerchr12:5321151..5321354hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165e201
Supporting Variantsessv6800182, essv6795993, essv6977110, essv6720644, essv6834856, essv6949056, essv6862330, essv6885058, essv6959209, essv6673101, essv6879461, essv6857143, essv6791817, essv6965727, essv6681536, essv6823590, essv6931801
SamplesSSM071, SSM027, SSM024, SSM079, SSM087, SSM093, SSM088, SSM029, SSM026, SSM031, SSM044, SSM033, SSM072, SSM082, SSM020, SSM070, SSM095
Known Genes
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)esv2745460
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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