A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657184



Internal ID9576603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221523564..221523863hg38UCSC Ensembl
chr2:222388284..222388583hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5719358, essv6163550, essv5836274, essv5644432, essv5809511, essv6484159, essv5581068, essv5896280, essv6098444, essv6187762, essv6567243, essv5621466, essv5559929, essv5947648, essv5647608, essv5666662, essv5849224, essv5878262, essv6405313, essv6244295, essv5649274, essv6046794, essv5894521, essv5681763, essv6116388, essv5461772, essv6520042, essv5959568, essv6040343, essv5748835, essv6136561, essv5597936, essv5610684, essv5549652, essv5874807, essv6226082, essv5902911, essv6347104, essv5678070, essv6348658, essv6499093, essv5823643, essv6135690, essv5647600, essv6525766, essv5741164, essv6443786, essv5474898, essv5400279, essv5834262, essv5621012, essv6511457, essv5831543, essv6487646, essv5674738, essv5716657, essv6028650, essv6438956, essv5996667, essv6429318, essv6469797, essv6405807, essv6177347, essv5777889, essv6416198, essv6424059, essv6026038, essv6121525, essv5689929, essv5478929, essv6278471, essv6409627, essv6027872, essv5638991, essv5803975
SamplesHG00613, NA12154, NA19445, NA18520, NA19321, NA19003, HG00261, NA20299, HG01389, NA19670, HG01197, NA18972, NA12828, HG00428, NA18608, NA19144, NA19379, NA19004, HG00177, NA19355, HG00737, HG01171, NA12414, NA19762, HG01550, NA19428, NA18967, HG00472, HG01375, HG00638, NA19900, NA18990, NA18592, NA18856, NA19088, NA18956, NA19398, NA19908, NA11831, HG01136, NA18973, NA18593, NA19190, NA19360, NA19377, NA19786, NA19153, HG00653, NA20126, NA18510, NA18977, HG01356, HG00478, NA18961, HG01080, NA18988, NA18562, NA19328, NA18910, NA18940, NA18987, NA18999, NA18597, NA19723, NA20332, NA18565, NA18631, NA19434, NA19755, HG01390, NA19749, HG01108, NA18574, HG01374, NA19758
Known GenesEPHA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657184
Frequency
Sample Size1151
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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