A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727100



Internal ID9961408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8131590..8131990hg38UCSC Ensembl
Outerchr4:8133317..8133717hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726562, essv6840703, essv6938426, essv6785806, essv6968750, essv6833262, essv6910783, essv6880973, essv6962760, essv6860090, essv6777639, essv6794081, essv6934101
SamplesSSM022, SSM027, SSM082, SSM084, SSM088, SSM071, SSM067, SSM094, SSM028, SSM069, SSM021, SSM046, SSM015
Known GenesABLIM2
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)esv2727100
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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