A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732127



Internal ID9966445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57046538..57091812hg38UCSC Ensembl
Outerchr6:56911336..56956610hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3845275
hg1945275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963768, essv6754562, essv6729098, essv6907590, essv6743193, essv6818249, essv6860893, essv6811336
SamplesSSM027, SSM088, SSM058, SSM014, SSM007, SSM078, SSM053, SSM076
Known GenesKIAA1586, ZNF451
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)esv2732127
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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