A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592363



Internal ID6979690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127466116..127468254hg38UCSC Ensembl
Innerchr2:127466117..127468254hg38UCSC Ensembl
Outerchr2:127466116..127468255hg38UCSC Ensembl
chr2:128223692..128225830hg19UCSC Ensembl
Innerchr2:128223693..128225830hg19UCSC Ensembl
Outerchr2:128223692..128225831hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382139
hg192139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10663748, essv10663727, essv10663745, essv10663732, essv10663764, essv10663726, essv10663763, essv10663750, essv10663762, essv10663776, essv10663769, essv10663765, essv10663725, essv10663759, essv10663760, essv10663735, essv10663774, essv10663733, essv10663761, essv10663744, essv10663751, essv10663724, essv10663773, essv10663728, essv10663740, essv10663734, essv10663719, essv10663730, essv10663737, essv10663738, essv10663772, essv10663756, essv10663770, essv10663768, essv10663741, essv10663752, essv10663775, essv10663767, essv10663747, essv10663718, essv10663757, essv10663739, essv10663736, essv10663742, essv10663746, essv10663771, essv10663753, essv10663723, essv10663777, essv10663766, essv10663755, essv10663749, essv10663721, essv10663729, essv10663778, essv10663758, essv10663754, essv10663722, essv10663720, essv10663731, essv10663743
SamplesHG03559, HG02890, NA19703, HG03378, NA19909, HG02433, HG03449, HG03190, NA18504, HG03172, NA19171, NA18519, NA19762, HG02541, NA19131, HG02645, HG03105, NA18498, NA20291, NA18874, HG03212, HG03380, HG02427, HG00637, NA18864, HG03073, NA20127, NA18908, NA19451, HG03120, HG02570, HG03160, HG02322, NA18871, HG03081, HG02014, HG03085, HG01311, NA19114, HG02577, NA18912, NA18853, NA18523, NA19206, HG02501, NA19037, HG03117, NA19144, HG02314, HG02814, HG03084, HG02095, HG01912, NA19185, HG02013, HG03401, HG01883, NA19121, NA19430, HG02805, HG03303
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592363
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer