A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718914



Internal ID9953206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54737994..54740206hg38UCSC Ensembl
Outerchr19:55249459..55251652hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382213
hg192194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832338, essv6948207, essv6666550, essv6842220, essv6937391, essv6835918, essv6946200, essv6895616, essv6828777, essv6933026, essv6713992, essv6793002, essv6782277, essv6874864, essv6846778, essv6913734
SamplesSSM008, SSM011, SSM042, SSM023, SSM021, SSM029, SSM003, SSM085, SSM081, SSM082, SSM020, SSM015, SSM080, SSM010, SSM070, SSM098
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)esv2718914
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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