A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745877



Internal ID9980161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51196835..51197409hg38UCSC Ensembl
Outerchr12:51590618..51591192hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755573, essv6936153, essv6772070, essv6681600, essv6857234, essv6939229, essv6885099, essv6760992, essv6867186, essv6899543, essv6673178, essv6904933, essv6744041, essv6924366, essv6965799
SamplesSSM027, SSM065, SSM087, SSM013, SSM058, SSM021, SSM018, SSM061, SSM089, SSM003, SSM031, SSM033, SSM053, SSM095, SSM012
Known GenesPOU6F1
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)esv2745877
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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