A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745669



Internal ID9979953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27557996..27559016hg38UCSC Ensembl
Outerchr12:27710929..27711949hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819687, essv6711099, essv6698750, essv6765767, essv6744025, essv6806386, essv6673149, essv6755547, essv6953225, essv6920184, essv6772020, essv6722709, essv6908684, essv6912602, essv6857194, essv6741070, essv6752567, essv6936130, essv6687453
SamplesSSM008, SSM087, SSM038, SSM074, SSM002, SSM057, SSM058, SSM021, SSM017, SSM031, SSM001, SSM006, SSM015, SSM078, SSM053, SSM005, SSM025, SSM052, SSM063
Known GenesPPFIBP1
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)esv2745669
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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