A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718912



Internal ID9953204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54735314..54759027hg38UCSC Ensembl
Outerchr19:55246781..55270479hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3823714
hg1923699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535e201
Supporting Variantsessv6835919, essv6832338, essv6948207, essv6666550, essv6842220, essv6937391, essv6835918, essv6946200, essv6820945, essv6895616, essv6828777, essv6937392, essv6925426, essv6933026, essv6713992, essv6793002, essv6782277, essv6874864, essv6933029, essv6846778, essv6877485, essv6913734
SamplesSSM008, SSM011, SSM042, SSM023, SSM092, SSM021, SSM018, SSM029, SSM003, SSM085, SSM081, SSM082, SSM020, SSM015, SSM078, SSM080, SSM010, SSM070, SSM098
Known GenesKIR2DL3, KIR3DL3
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)esv2718912
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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