A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716689



Internal ID9950977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3568758..3571735hg38UCSC Ensembl
Outerchr18:3568756..3571733hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382978
hg192978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717591, essv6732915, essv6941172, essv6753092, essv6921018, essv6735648, essv6877238, essv6816100, essv6738415, essv6750189, essv6913380, essv6812077, essv6905621, essv6960567, essv6747361
SamplesSSM022, SSM092, SSM013, SSM055, SSM043, SSM057, SSM050, SSM077, SSM056, SSM017, SSM009, SSM047, SSM015, SSM026, SSM049
Known GenesDLGAP1
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)esv2716689
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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