A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750443



Internal ID9811037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54834427..54834654hg38UCSC Ensembl
Outerchr19:55345882..55346109hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718926, esv2718913, esv2718872, esv2718920, esv2718931
Supporting Variants
SamplesSSM056
Known GenesKIR2DS4
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)essv6750443
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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