A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6719366



Internal ID10132097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32312684..32319226hg38UCSC Ensembl
Outerchr6:32280461..32287003hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386543
hg196543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731826
Supporting Variants
SamplesSSM044
Known GenesC6orf10
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)essv6719366
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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