A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728575



Internal ID9962889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155837153..155837274hg38UCSC Ensembl
Outerchr4:156758305..156758426hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690087, essv6956336
SamplesSSM036, SSM026
Known GenesASIC5
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)esv2728575
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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