A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745967



Internal ID10326937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:62628849..62629712hg38UCSC Ensembl
Outerchr12:63022629..63023492hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772253, essv6761001, essv6842463, essv6936161, essv6857244, essv6741092, essv6772074, essv6970842, essv6775726, essv6965813, essv6899654
SamplesSSM008, SSM027, SSM065, SSM087, SSM028, SSM084, SSM021, SSM061, SSM066, SSM052, SSM012
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)esv2745967
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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