A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716966



Internal ID9951255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37337929..37338745hg38UCSC Ensembl
Outerchr18:34917892..34918708hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839417, essv6888620, essv6792686, essv6747385, essv6928601, essv6941207, essv6852444, essv6666027, essv6932731, essv6674422, essv6717625, essv6913462, essv6949934, essv6863306, essv6725285, essv6703291, essv6710149, essv6816132, essv6756136, 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, SSM058, SSM084, SSM021, SSM069, SSM061, SSM029, SSM096, SSM019, SSM094, SSM031, SSM044, SSM001, SSM086, SSM082, SSM020, SSM015, SSM078, SSM016, SSM080, SSM077, SSM022, SSM055, 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)esv2716966
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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