A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6760149



Internal ID9820730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161895223..161896380hg38UCSC Ensembl
Outerchr6:162316255..162317412hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733088
Supporting Variants
SamplesSSM061
Known GenesPARK2
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)essv6760149
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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