A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733104



Internal ID9967426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:162529206..162533487hg38UCSC Ensembl
Outerchr6:162950238..162954519hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg384282
hg194282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740110
SamplesSSM052
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)esv2733104
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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