A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674159



Internal ID9593578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151410235..151413086hg38UCSC Ensembl
Outerchr5:151410191..151413146hg38UCSC Ensembl
Innerchr5:150789796..150792647hg19UCSC Ensembl
Outerchr5:150789752..150792707hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382956
hg192956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1049e199
Supporting Variantsessv6227851, essv6508698, essv5880054, essv6117976, essv6494605, essv6241931, essv6441393, essv5709280, essv6518360, essv6410168, essv6436203, essv5647577, essv6547602, essv6189877, essv6406187, essv5461113, essv5771456, essv5985848, essv5702255, essv5406727, essv6209557, essv5779375, essv6363882, essv5777498, essv5700458, essv5627837, essv5659036, essv6514920, essv5685324, essv5597919, essv5698145, essv6503617, essv5558602, essv5537455, essv5710768, essv6203040, essv6148987, essv6077724, essv5735551, essv5920039, essv5941249, essv6353006, essv6146900, essv6109883, essv5698882, essv5677173, essv6342181, essv5588909, essv6185379, essv5706736, essv6130677, essv6079744, essv6298858, essv6079082, essv6039236, essv5610346, essv6145838, essv6014128, essv6263354, essv5670306, essv6451056, essv5714225, essv5638975, essv6202294, essv6131455, essv6412717, essv6169891, essv5760606, essv5894248, essv5719399, essv5853753, essv6129033, essv6110365, essv6120669, essv5630796, essv6325687, essv5621278, essv5846644, essv6084998, essv6405679, essv5658939, essv5433095, essv6185588, essv6101506, essv5846059, essv6394336, essv6074794, essv5522242, essv6343868, essv5858846, essv6429918, essv5449858, essv5470912, essv5908881, essv6386422, essv6157838, essv6097919, essv5811547
SamplesNA20543, HG00249, HG00524, NA18561, NA12843, NA11931, HG00306, NA20512, NA12751, NA18545, NA18596, HG00737, NA19190, HG01051, NA18633, NA19067, NA18602, HG01140, NA18563, NA18940, NA18597, NA18489, NA18982, NA19916, NA18547, NA18942, NA18916, NA11918, HG01083, NA19138, NA19054, HG00512, HG00139, NA20539, HG00156, NA18868, HG00422, HG01440, HG00427, HG00326, NA20757, NA18973, NA18867, HG00530, NA19921, NA18638, NA20753, HG00260, NA19007, HG00137, NA18605, NA18613, NA18538, NA19077, HG00475, NA18637, NA20506, NA18572, HG00692, NA18548, NA18573, HG00651, NA19000, NA18532, NA19059, NA18555, NA19682, NA18536, NA18570, NA18593, HG01107, NA18945, NA18576, NA18546, NA18632, NA19834, NA19147, NA18564, HG00278, NA19835, NA19334, HG00473, HG01137, HG00256, HG01489, HG00513, HG00259, NA20582, NA19716, NA18636, NA18609, HG00280, HG00131, NA18984, NA18624, NA19063, NA18549, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674159
Frequency
Sample Size1151
Observed Gain0
Observed Loss98
Observed Complex0
Frequencyn/a


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