A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659238



Internal ID9925343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99128186..99128306hg38UCSC Ensembl
chr14:99594523..99594643hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5544914, essv6042214, essv6557076, essv5757668, essv6098351, essv5784644, essv6483026, essv6509002, essv6022568, essv5709867, essv5919789, essv6278302, essv6384105, essv5914023, essv5427632, essv6171055, essv6026150, essv5769490, essv5923441, essv6148609, essv5663828, essv6228305, essv5856452, essv5691882, essv6215912, essv6014254, essv5738393, essv6083146, essv5483477, essv5939526, essv5805768, essv6321359, essv5607565, essv5553561, essv5912490
SamplesHG00650, NA18621, HG00449, NA18602, HG00337, HG01350, HG00689, HG00330, HG01083, NA19404, HG00281, HG01072, HG00328, HG00584, HG00533, HG00500, HG00619, HG00708, HG01390, HG00324, HG01073, HG00273, HG00613, HG00321, NA18543, HG00375, HG01108, NA19360, HG00421, HG00329, HG00342, HG00274, NA18624, NA18622, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659238
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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