A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678619



Internal ID9944724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180286145..180286723hg38UCSC Ensembl
chr5:179713145..179713723hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6423197, essv5603905, essv6318363, essv5662626, essv5704672, essv6589468, essv6554995, essv5822867, essv5824778, essv6022585, essv6045228, essv6038202, essv5814293, essv6111043, essv6041794, essv6010648, essv6586970, essv5973799, essv5506422, essv5589951, essv5621817, essv6380355, essv6591593, essv6287006, essv5989942, essv5458534, essv5667631, essv6047636, essv6129463, essv5668239, essv6123679, essv5757049, essv6584545, essv6445857, essv6398634, essv6270698, essv5572674, essv5617498, essv6175573, essv5594523, essv6571679, essv5641340, essv6536626, essv5491561, essv6054841, essv5413342, essv5828146, essv6133364, essv5402182, essv5563644, essv5563573, essv5730305, essv5946364, essv5569807, essv6459683, essv6444232, essv6428303, essv6149037, essv5541824, essv6311405, essv5987468, essv5928803, essv5423686, essv5974960, essv5776750, essv5559677, essv5936498, essv6196655, essv5660133, essv5602856, essv6012702, essv5833207
SamplesHG00559, NA18565, HG00640, NA18616, HG00449, HG00663, NA19068, NA19660, NA19076, NA18597, NA19728, NA18635, NA18567, NA18558, NA18618, HG00610, HG01354, NA19088, HG01365, NA19079, HG00422, NA18986, NA18990, NA18985, HG00419, NA19789, NA18539, NA18638, NA18614, HG00543, NA18951, NA18613, HG00629, HG00443, HG01171, HG00428, HG00653, HG00701, HG00475, HG00533, NA18637, NA19654, NA18566, HG00404, HG00684, NA19453, HG00613, NA19452, HG00704, NA19225, HG00463, NA18608, NA19685, HG00611, NA18564, NA18628, NA18950, HG00473, NA18943, HG00662, NA18610, HG00125, HG00478, NA19785, NA19770, NA19080, NA19780, NA18983, HG01377, HG01061, HG00581, HG00593
Known GenesMAPK9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678619
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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