A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6974971



Internal ID10082996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149177743..149178107hg38UCSC Ensembl
Outerchr6:149498879..149499243hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732855
Supporting Variants
SamplesSSM029
Known Genes
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)essv6974971
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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