A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv668e199



Internal ID20123970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54768493..54828837hg38UCSC Ensembl
chr19:55279945..55340292hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3860345
hg1960348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656907, esv2666421
SamplesNA20281, NA18621, NA19625, NA18605, NA19712, NA18595, NA18616, NA19904, NA20278, NA18534, NA18535, NA18630, NA18561, NA18612, NA18526, NA20346, NA18550, NA18570, NA20299, NA18545, NA18603, NA20294, NA20296, NA20342, NA18573, NA18608, NA19920, NA18542, NA18541, NA18546, NA19834, NA20314, NA19701, NA20322, NA18626, NA18628, NA20340, NA18632, NA18559, NA19914, NA19982, NA18624, NA18627, NA20356, NA18566, NA19917, NA18536, NA18622, NA18563, NA18618, NA18623, NA18636, NA18592, NA20127, NA18638, NA19908, NA18609, NA18547, NA19985, NA18637, NA19835, NA20282, NA20336, NA18593, NA18634, NA19700, NA20341, NA18539, NA18537, NA18620, NA18633, NA20291, NA18572, NA19703, NA20126, NA20348, NA18558, NA19704, NA18564, NA19909, NA18613, NA19707, NA18562, NA18579, NA19711, NA18606, NA18543, NA18582, NA19921, NA18552, NA18567, NA20276, NA20332, NA18538, NA18565, NA18631, NA18560, NA20287, NA18602, NA18577, NA18614, NA18548, NA20317, NA18571, NA19916, NA18610, NA18611, NA18532, NA18549, NA18615, NA18555, NA18553
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv668e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss112
Observed Complex0
Frequencyn/a


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