A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1109e201



Internal ID20125996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101034234..101036924hg38UCSC Ensembl
chr7:100677515..100680205hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2734914, esv2734922, esv2734918, esv2734920
SamplesSSM100, SSM059, SSM083, SSM027, SSM024, SSM046, SSM011, SSM065, SSM087, SSM038, SSM097, SSM013, SSM093, SSM074, SSM002, SSM023, SSM084, SSM018, SSM069, SSM062, SSM026, SSM089, SSM019, SSM001, SSM086, SSM033, SSM085, SSM081, SSM040, SSM072, SSM007, SSM015, SSM016, SSM022, SSM010, SSM055, SSM070, SSM034, SSM004, SSM043, SSM098, SSM012
Known GenesMUC17
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)dgv1109e201
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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