A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669068



Internal ID9935173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833003..89244939hg38UCSC Ensembl
Outerchr2:88832632..89245309hg38UCSC Ensembl
Innerchr2:89132516..89544422hg19UCSC Ensembl
Outerchr2:89132145..89544792hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38412678
hg19412648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e199
Supporting Variantsessv6559208, essv5523542, essv6198577, essv6222043, essv5854760, essv6053165, essv6229470, essv5438986, essv5981429, essv6172338, essv5837912, essv6093430, essv6294818, essv6424043, essv6246594, essv5799165, essv6071786, essv5835317, essv5681697, essv6231936, essv6592677, essv5452306, essv6136782, essv6494436, essv5492910, essv5730635, essv6241276, essv6515365, essv6589464, essv5490844, essv6280918, essv5597526, essv5766378, essv6331136, essv6366469, essv6261847, essv5976020, essv6484310, essv6110288, essv6505139, essv5950054, essv6034428, essv6043744, essv5608404, essv5421884, essv6427123, essv6246778, essv6516986, essv5562293, essv6469528, essv5874817, essv6166272, essv5460891, essv5575768, essv6341549, essv6010005, essv5699584, essv5839777, essv6109642, essv6433431, essv5666875, essv5584664, essv5609241, essv5760222, essv5850620, essv6394931, essv5585111, essv5875617, essv5936376, essv6079059, essv5862858, essv6121116, essv5479711, essv5448940, essv6291010, essv6588594, essv5523311
SamplesNA20588, NA20761, NA20529, NA20766, NA20514, NA20816, NA20813, NA20752, NA20802, NA20512, NA20805, NA20808, NA20507, NA20771, NA20806, NA20814, NA20796, NA20798, NA20589, NA20586, NA20756, NA20769, NA20768, NA20540, NA20513, NA20759, NA20539, NA20518, NA20819, NA20812, NA20811, NA20757, NA20515, NA20755, NA20753, NA20535, NA20800, NA20787, NA20524, NA20505, NA20809, NA20521, NA20810, NA20760, NA20536, NA20506, NA20519, NA20770, NA20525, NA20828, NA20542, NA20765, NA20526, NA20773, NA20522, NA20801, NA20815, NA20804, NA20520, NA20785, NA20790, NA20530, NA20527, NA20778, NA20504, NA20544, NA20516, NA20803, NA20797, NA20582, NA20510, NA20807, NA20758, NA20826, NA20503, NA20502, NA20585
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669068
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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