A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732324



Internal ID10315960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:76707863..76731134hg38UCSC Ensembl
Outerchr6:77417580..77440851hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3823272
hg1923272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737003
SamplesSSM050
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)esv2732324
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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