A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718221



Internal ID10301857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14852223..14903567hg38UCSC Ensembl
Outerchr19:14963035..15014379hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3851345
hg1951345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703517, essv6950156, essv6914462, essv6773105, essv6877425, essv6898349, essv6810119, essv6769245, essv6693776, essv6874419, essv6725477, essv6780043, essv6797089, essv6756308, essv6902214, essv6816302, essv6925335, essv6696675, essv6792900, essv6917092, essv6835847, essv6666402, essv6747550, essv6954330, essv6947396, essv6846700, essv6839633, essv6666466, essv6843504, essv6824628, essv6807124, essv6780154, essv6776656, essv6678846, essv6921314, essv6763993, essv6888761
SamplesSSM083, SSM071, SSM024, SSM075, SSM045, SSM064, SSM079, SSM065, SSM039, SSM074, SSM002, SSM058, SSM092, SSM084, SSM018, SSM029, SSM096, SSM062, SSM017, SSM032, SSM003, SSM001, SSM066, SSM085, SSM082, SSM016, SSM005, SSM037, SSM077, SSM091, SSM055, SSM070, SSM025, SSM004, SSM099, SSM012
Known GenesOR7A17
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)esv2718221
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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