A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732726



Internal ID10316362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133833418..133833641hg38UCSC Ensembl
Outerchr6:134154556..134154779hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884310, essv6855954, essv6671245, essv6911435, essv6963877, essv6849277, essv6676668, essv6860978
SamplesSSM027, SSM011, SSM088, SSM032, SSM031, SSM086, SSM015, SSM095
Known GenesMGC34034
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)esv2732726
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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