A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6898427



Internal ID9944054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54736183..54848119hg38UCSC Ensembl
Outerchr19:55247650..55359574hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38111937
hg19111925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718913, esv2718911, esv2718872
Supporting Variants
SamplesSSM099
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL3, 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)essv6898427
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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