A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732388



Internal ID10316024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:87407767..87408878hg38UCSC Ensembl
Outerchr6:88117485..88118596hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667605, essv6767594, essv6860935, essv6818295, essv6875787, essv6765063, essv6704221, essv6737007, essv6740022, essv6894709, essv6748801, essv6974870
SamplesSSM064, SSM050, SSM088, SSM002, SSM092, SSM029, SSM006, SSM078, SSM052, SSM056, SSM030, SSM063
Known GenesC6orf165
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)esv2732388
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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