A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716967



Internal ID9951256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37338068..37338342hg38UCSC Ensembl
Outerchr18:34918031..34918305hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839417, essv6888620, essv6792686, essv6928601, essv6852444, essv6666027, essv6932731, essv6674422, essv6717625, essv6913462, essv6949934, essv6863306, essv6725285, essv6703291, essv6710149, essv6816132, essv6835638, essv6721471, essv6788593, essv6913420, essv6820588, essv6769110, essv6768264, essv6761519, essv6685717, essv6843284, essv6916880, essv6882888, essv6954094, essv6937034, essv6828484, essv6772882
SamplesSSM083, SSM024, SSM045, SSM064, SSM065, SSM039, SSM088, SSM002, SSM041, SSM084, SSM021, SSM069, SSM061, SSM029, SSM096, SSM019, SSM094, SSM031, SSM044, SSM001, SSM086, SSM082, SSM020, SSM015, SSM078, SSM016, SSM080, SSM077, SSM070, SSM025, SSM034, SSM043
Known GenesCELF4
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)esv2716967
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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