A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744286



Internal ID10325256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15063474..15064071hg38UCSC Ensembl
Outerchr1:15389970..15390567hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941781, essv6666895, essv6769513
SamplesSSM065, SSM023, SSM030
Known GenesKAZN
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)esv2744286
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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