A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727921



Internal ID9962233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85541120..85541490hg38UCSC Ensembl
Outerchr4:86462273..86462643hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829759, essv6730438, essv6872374, essv6777728
SamplesSSM047, SSM067, SSM081, SSM091
Known GenesARHGAP24
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)esv2727921
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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