A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727757



Internal ID10311393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:66513959..66527893hg38UCSC Ensembl
Outerchr4:67379677..67393611hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3813935
hg1913935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697578, essv6790023, essv6903279
SamplesSSM038, SSM013, SSM070
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)esv2727757
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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