A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725310



Internal ID10308946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:57891654..57893042hg38UCSC Ensembl
Outerchr3:57877381..57878769hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942452, essv6770095, essv6707747, essv6762173, essv6872141
SamplesSSM065, SSM041, SSM023, SSM062, SSM091
Known GenesSLMAP
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)esv2725310
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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