A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745688



Internal ID9979972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29691382..29693510hg38UCSC Ensembl
Outerchr12:29844315..29846443hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749682, essv6857197, essv6970804, essv6927939, essv6879494, essv6755549, essv6724498, essv6711121, essv6735188, essv6920187, essv6912603, essv6924349, essv6800217, essv6806387, essv6812219, essv6728333, essv6834920, essv6891284, essv6702451, essv6681573, essv6867158, essv6668211, essv6685082, essv6805743, essv6809379, essv6977183, essv6845950, essv6827697, essv6712991, essv6722931, essv6738487, essv6772048, essv6971385, essv6737889, essv6796029, essv6709497, essv6899354, essv6916126, essv6834884, essv6842440, essv6720684
SamplesSSM010, SSM065, SSM007, SSM082, SSM006, SSM033, SSM084, SSM042, SSM089, SSM072, SSM071, SSM016, SSM001, SSM039, SSM045, SSM050, SSM097, SSM041, SSM012, SSM093, SSM056, SSM085, SSM017, SSM009, SSM028, SSM029, SSM030, SSM034, SSM087, SSM046, SSM019, SSM044, SSM074, SSM004, SSM075, SSM015, SSM049, SSM018, SSM076, SSM058, SSM080
Known GenesTMTC1
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)esv2745688
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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