A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726735



Internal ID3277231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:914079..915231hg38UCSC Ensembl
Outerchr4:907867..909019hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381153
hg191153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912151, essv6918165, essv6840665, essv6899179
SamplesSSM084, SSM001, SSM100, SSM017
Known GenesGAK
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)esv2726735
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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