A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6802490



Internal ID10207268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2907812..2907996hg38UCSC Ensembl
Outerchr6:2908046..2908230hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731475, esv2731478, esv2731480, esv2731481, esv2731471
Supporting Variants
SamplesSSM073
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)essv6802490
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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