A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725842



Internal ID10309478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123959377..123960445hg38UCSC Ensembl
Outerchr3:123678224..123679292hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848026, essv6669968, essv6973535, essv6807864, essv6962541, essv6739356, essv6753976, essv6922390, essv6733881, essv6707800, essv6751060
SamplesSSM027, SSM075, SSM041, SSM057, SSM058, SSM018, SSM029, SSM031, SSM086, SSM052, SSM049
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)esv2725842
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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