A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733244



Internal ID9795884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54755127..54769866hg38UCSC Ensembl
Outerchr19:55266579..55281318hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3814740
hg1914740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718924, esv2718913, esv2718922, esv2718923, esv2718911, esv2718872, esv2718921, esv2718920
Supporting Variants
SamplesSSM047
Known GenesKIR2DL1
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)essv6733244
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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