A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727617



Internal ID3278113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54711339..54711985hg38UCSC Ensembl
Outerchr4:55577505..55578151hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679950, essv6848301, essv6942778, essv6759633, essv6770322, essv6914675, essv6934165, essv6754123, essv6854447, essv6962865, essv6755787, essv6968823
SamplesSSM065, SSM027, SSM086, SSM033, SSM061, SSM016, SSM028, SSM021, SSM087, SSM023, SSM008, SSM058
Known GenesKIT
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)esv2727617
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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