A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv815e201



Internal ID20125702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8233957..8234402hg38UCSC Ensembl
chr4:8235684..8236129hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2727105, esv2727103
SamplesSSM089, SSM031, SSM071, SSM083, SSM066, SSM029, SSM003, SSM068, SSM015, SSM026
Known GenesSH3TC1
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)dgv815e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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