A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv171e201



Internal ID20125058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428156..10447545hg38UCSC Ensembl
chr12:10580755..10600144hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3819390
hg1919390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741838, esv2741465, esv2742411, esv2741640, esv2742297, esv2741619, esv2742643, esv2741364, esv2741592, esv2742486, esv2743088, esv2742797, esv2742687, esv2743410, esv2741494, esv2742846, esv2741313, esv2742267, esv2741007, esv2741644, esv2742360, esv2742549, esv2742192, esv2742470, esv2741338, esv2741037, esv2741641, esv2743324, esv2742726, esv2741685, esv2742969, esv2743038, esv2741365, esv2740938, esv2741544, esv2742886, esv2741419, esv2742930, esv2743133, esv2742770, esv2743327, esv2741956, esv2742845, esv2743278, esv2742591
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM036, SSM055, SSM091, SSM084, SSM061, SSM040, SSM089, SSM064, SSM020, SSM016, SSM057, SSM039, SSM024, SSM097, SSM012, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM063, SSM087, SSM019, SSM023, SSM052, SSM004, SSM015, SSM014, SSM049, SSM008, SSM018, SSM058, SSM070
Known GenesKLRC1, KLRC2
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)dgv171e201
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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