A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704532



Internal ID9995945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:144812978..144818062hg38UCSC Ensembl
Outerchr6:145134114..145139198hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg385085
hg195085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732826
Supporting Variants
SamplesSSM006
Known GenesUTRN
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)essv6704532
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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