A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954432



Internal ID9712101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54472596..55094256hg38UCSC Ensembl
Outerchr19:54983741..55605624hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38621661
hg19621884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872
Supporting Variants
SamplesSSM025
Known GenesCDC42EP5, EPS8L1, FCAR, GP6, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, LAIR2, LILRA1, LILRA2, LILRB1, LILRB4, LILRP2, LOC100287534, MIR8061, NCR1, NLRP2, NLRP7, PPP1R12C, RDH13, RNU6-35P, RNU6-64P
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)essv6954432
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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