A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718110



Internal ID10301746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7870551..7871653hg38UCSC Ensembl
Outerchr19:7935437..7936539hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381103
hg191103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv503e201
Supporting Variantsessv6797077, essv6696663, essv6874406, essv6784618, essv6717799, essv6666321, essv6954319, essv6776643, essv6937281, essv6682508, essv6816294, essv6710312, essv6666385, essv6877416, essv6773091, essv6828699, essv6692420, essv6921305, essv6946089, essv6858703, essv6843493, essv6741861, essv6733139, essv6725471, essv6925327, essv6892068, essv6832257, essv6932918, essv6813932, essv6967432, essv6792893, essv6971897, essv6835839, essv6801281, essv6721657, essv6706990
SamplesSSM036, SSM071, SSM027, SSM045, SSM065, SSM087, SSM097, SSM009, SSM041, SSM023, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM029, SSM017, SSM044, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM080, SSM037, SSM077, SSM091, SSM070, SSM025, SSM004, SSM043, SSM052
Known GenesFLJ22184
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)esv2718110
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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