A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725569



Internal ID9789807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54780744..54827195hg38UCSC Ensembl
Outerchr19:55292196..55338650hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3846452
hg1946455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718924, esv2718926, esv2718913, esv2718922, esv2718928, esv2718872, esv2718920
Supporting Variants
SamplesSSM045
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
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)essv6725569
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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