A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv19e201



Internal ID22759377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36957294..36960062hg38UCSC Ensembl
chr1:37422895..37425663hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382769
hg192769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2747041, esv2747063, esv2747018, esv2747085
SamplesSSM100, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM002, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM052, SSM098, SSM056
Known GenesGRIK3
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)dgv19e201
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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