A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732559



Internal ID10316195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:108502100..108502357hg38UCSC Ensembl
Outerchr6:108823303..108823560hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833852, essv6930515, essv6963845, essv6694231, essv6957131, essv6680467, essv6729575
SamplesSSM027, SSM026, SSM033, SSM082, SSM020, SSM007, SSM037
Known GenesLACE1
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)esv2732559
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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