A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2e214



Internal ID20121425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1695226..1749609hg38UCSC Ensembl
chr1:1626665..1681048hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3854384
hg1954384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585013, esv3585014
SamplesHG01441, HG03800, NA21097, HG00121, NA20877, NA18647, HG03052, NA18565, HG04229, HG02026, HG02433, NA12843, HG04211, HG01188, HG01374, HG01066, NA20512, NA12751, HG01531, HG03455, HG00452, NA19777, NA18596, NA18504, NA19443, NA12750, HG01500, NA19792, NA21135, NA18940, HG03099, HG03757, HG01702, HG02952, HG01064, HG01676, HG01277, HG03976, NA18635, HG03765, HG03485, HG03370, HG00610, HG03246, HG01354, NA12762, HG04131, HG03224, HG01840, NA19384, HG01393, HG01242, NA20539, HG03803, NA20518, HG02490, NA21109, HG01170, NA20896, HG01757, NA20340, HG01281, NA19207, HG01308, HG03696, HG03352, HG02073, HG00637, HG01709, HG00178, HG00253, HG00365, NA19200, NA18638, NA20753, HG02134, HG01603, HG01524, NA18645, HG01784, HG01139, NA20892, NA18538, HG01501, NA19070, HG01122, NA18934, HG00596, HG00557, NA20505, NA12003, HG01790, HG02057, HG04195, HG04107, NA19391, NA19717, NA19081, HG03945, NA12718, HG02728, HG02165, NA18976, HG01852, HG03781, HG02976, HG01889, NA21116, NA20876, HG03823, HG03967, NA19654, HG00284, HG00250, HG03858, HG00531, HG00479, NA20581, HG00331, HG02309, HG01182, NA06989, HG01593, HG04063, HG03745, HG03634, HG02601, NA12144, HG01403, HG03752, HG01936, HG04176, HG02330, NA18632, HG00155, NA19309, HG02282, HG04227, HG01190, HG00336, HG04026, HG02501, NA20815, HG03899, HG03692, HG01551, HG03117, NA20804, HG02837, HG01396, NA19144, NA20362, HG01375, NA20902, HG04099, NA20544, HG01798, NA20803, NA21094, HG03681, HG02558, HG03103, NA19328, HG02700, HG02128, NA18631, HG04015, HG00259, NA21088, NA20847, HG03646, HG01912, NA21090, HG03097, NA20849, NA21102, HG00656, HG03279, HG02938, HG02053, HG03258, HG03351, HG00310, HG02239, NA18552, HG03470, HG01431, NA19430, NA18957, HG03856, HG01111, NA12006, HG03198, HG01191, NA19346, HG00362, HG02060, HG00581, NA18620
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv2e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss199
Observed Complex0
Frequencyn/a


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