A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957131



Internal ID10065789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:108502100..108502356hg38UCSC Ensembl
Outerchr6:108823303..108823559hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732559
Supporting Variants
SamplesSSM026
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)essv6957131
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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