A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726903



Internal ID10310539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3509717..3509930hg38UCSC Ensembl
Outerchr4:3511444..3511657hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711293, essv6707894, essv6880961, essv6794064, essv6813804, essv6785790, essv6955999, essv6892958
SamplesSSM071, SSM042, SSM041, SSM069, SSM026, SSM094, SSM077, SSM098
Known GenesLRPAP1
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)esv2726903
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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