A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718605



Internal ID10302241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43206318..43285539hg38UCSC Ensembl
Outerchr19:43710470..43789691hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3879222
hg1979222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv525e201
Supporting Variantsessv6764031, essv6667143, essv6925386, essv6707052, essv6717873, essv6717276, essv6928811, essv6666494, essv6913709, essv6766366, essv6917158, essv6917147, essv6769293, essv6717287, essv6895589, essv6717265, essv6761684, essv6666495
SamplesSSM064, SSM018, SSM061, SSM029, SSM062, SSM019, SSM006, SSM040, SSM015, SSM016, SSM004, SSM043, SSM098, SSM063
Known GenesLOC284344, PSG9
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)esv2718605
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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