A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745688

Internal ID9979972
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29691382..29693510hg38UCSC Ensembl
Outerchr12:29844315..29846443hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745688
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0

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