A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6707800



Internal ID10120097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123959750..123959879hg38UCSC Ensembl
Outerchr3:123678597..123678726hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725845, esv2725842, esv2725843
Supporting Variants
SamplesSSM041
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)essv6707800
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer