A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725844



Internal ID10309480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123959743..123959835hg38UCSC Ensembl
Outerchr3:123678590..123678682hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669968, essv6962541
SamplesSSM027, SSM031
Known GenesCCDC14
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)esv2725844
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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