A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732525



Internal ID10316161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104727054..104727895hg38UCSC Ensembl
Outerchr6:105174929..105175770hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963836, essv6957122, essv6974900, essv6830238, essv6934806, essv6888565, essv6961917, essv6740040, essv6887066, essv6814391, essv6849238
SamplesSSM027, SSM021, SSM029, SSM096, SSM026, SSM086, SSM081, SSM077, SSM004, 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)esv2732525
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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