A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv667e199



Internal ID20123969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54713543..54862137hg38UCSC Ensembl
chr19:55225045..55373592hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38148595
hg19148548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2671585, esv2663368
SamplesNA19137, NA19207, NA18870, NA19248, NA19312, NA19152, NA18520, NA18871, NA18933, NA19404, NA18523, NA19437, NA19114, NA19209, NA19401, NA19311, NA19469, NA18511, NA19319, NA18516, NA19317, NA19359, NA19334, NA19331, NA18517, NA19338, NA19449, NA18489, NA19144, NA19379, NA19257, NA19108, NA19236, NA19355, NA19474, NA18505, NA18873, NA19147, NA18868, NA19463, NA18912, NA18934, NA18508, NA19390, NA19197, NA19443, NA19107, NA19396, NA18856, NA19397, NA18916, NA19316, NA19360, NA19377, NA19153, NA19129, NA19172, NA19372, NA19375, NA19393, NA19384, NA18498, NA18486, NA18522, NA18510, NA18502, NA19119, NA19098, NA18504, NA18858, NA19347, NA19332, NA19131, NA19159, NA19328, NA18910, NA19462, NA19235, NA19138, NA19376, NA18907, NA18909, NA19116, NA19099, NA19327, NA18917, NA19399, NA19160, NA18499, NA19371, NA19315, NA19171, NA18853, NA19204, NA18908, NA19473, NA19200, NA19385, NA19456
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv667e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss99
Observed Complex0
Frequencyn/a


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