A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16929



Internal ID9614701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54163847..54954956hg38UCSC Ensembl
Innerchr19:54667579..55466324hg19UCSC Ensembl
Innerchr19:59359391..60158136hg18UCSC Ensembl
Innerchr19:59359391..60158136hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38791110
hg19798746
hg18798746
hg17798746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758507
Supporting Variants
SamplesNA19144
Known GenesCDC42EP5, FCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LILRP2, LOC100287534, MBOAT7, MIR4752, MIR8061, NCR1, NLRP7, RPS9, TMC4, TSEN34, TTYH1
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv16929
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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