A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718915



Internal ID9953207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54738579..54739399hg38UCSC Ensembl
Outerchr19:55250044..55250845hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38821
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828777, essv6937391, essv6946200, essv6895616, essv6913734, essv6933026, essv6782277, essv6874864, essv6948207, essv6713992, essv6832338, essv6846778, essv6835918, essv6842220, essv6793002
SamplesSSM010, SSM082, SSM042, SSM020, SSM085, SSM011, SSM003, SSM021, SSM023, SSM015, SSM008, SSM098, SSM081, SSM070, SSM080
Known GenesKIR2DL3
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)esv2718915
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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