A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745610



Internal ID9979894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18369087..18370259hg38UCSC Ensembl
Outerchr12:18522021..18523193hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687431, essv6936124, essv6908673, essv6865576
SamplesSSM011, SSM002, SSM021, SSM005
Known GenesPIK3C2G
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)esv2745610
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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