A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718237



Internal ID10301873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15651005..15651629hg38UCSC Ensembl
Outerchr19:15761815..15762439hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696682, essv6950159, essv6766332, essv6941411, essv6824635, essv6846704, essv6874423, essv6703522, essv6666489, essv6717811, essv6913653, essv6780479, essv6735803, essv6707005, essv6710324, essv6753277, essv6914496, essv6937301, essv6932934, essv6895548, essv6729305, essv6885755, essv6812933
SamplesSSM024, SSM046, SSM079, SSM039, SSM002, SSM041, SSM057, SSM021, SSM067, SSM085, SSM040, SSM020, SSM015, SSM037, SSM076, SSM022, SSM091, SSM095, SSM004, SSM043, SSM098, SSM049, SSM063
Known GenesCYP4F3
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)esv2718237
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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