A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644530



Internal ID7031285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46453596..46459670hg38UCSC Ensembl
Innerchr19:46453625..46459641hg38UCSC Ensembl
Outerchr19:46453567..46459699hg38UCSC Ensembl
chr19:46956853..46962927hg19UCSC Ensembl
Innerchr19:46956882..46962898hg19UCSC Ensembl
Outerchr19:46956824..46962956hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg386075
hg196075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16069665, essv16069642, essv16069645, essv16069654, essv16069641, essv16069639, essv16069669, essv16069643, essv16069644, essv16069658, essv16069670, essv16069650, essv16069666, essv16069663, essv16069662, essv16069664, essv16069649, essv16069659, essv16069651, essv16069660, essv16069656, essv16069652, essv16069655, essv16069646, essv16069668, essv16069657, essv16069648, essv16069661, essv16069647, essv16069640, essv16069667, essv16069653
SamplesHG03096, HG02890, HG02944, NA19397, HG03057, HG02012, HG03069, NA18510, HG03074, NA19746, HG02595, HG03105, HG02281, HG02420, NA20412, HG03225, HG03583, HG02439, HG03575, NA18871, HG02508, HG02014, HG02976, HG01049, HG02577, HG03388, HG03024, NA18523, HG02332, HG02282, HG02546, HG03259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644530
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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