A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728855



Internal ID10312491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183013075..183013909hg38UCSC Ensembl
Outerchr4:183934228..183935062hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38835
hg19835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670555, essv6715166, essv6826028, essv6930091, essv6956389, essv6974127, essv6700661
SamplesSSM039, SSM029, SSM026, SSM031, SSM020, SSM080, SSM043
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)esv2728855
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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