A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592508



Internal ID6632791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132422413..132423343hg38UCSC Ensembl
Innerchr2:132422414..132423343hg38UCSC Ensembl
Outerchr2:132422413..132423344hg38UCSC Ensembl
chr2:133179986..133180916hg19UCSC Ensembl
Innerchr2:133179987..133180916hg19UCSC Ensembl
Outerchr2:133179986..133180917hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10679721, essv10679734, essv10679776, essv10679715, essv10679767, essv10679725, essv10679723, essv10679754, essv10679757, essv10679738, essv10679741, essv10679747, essv10679749, essv10679771, essv10679772, essv10679712, essv10679735, essv10679720, essv10679711, essv10679727, essv10679773, essv10679762, essv10679709, essv10679769, essv10679750, essv10679751, essv10679733, essv10679746, essv10679724, essv10679745, essv10679743, essv10679758, essv10679710, essv10679765, essv10679770, essv10679736, essv10679761, essv10679722, essv10679763, essv10679726, essv10679752, essv10679730, essv10679760, essv10679718, essv10679755, essv10679732, essv10679764, essv10679768, essv10679716, essv10679744, essv10679717, essv10679748, essv10679742, essv10679739, essv10679775, essv10679737, essv10679714, essv10679713, essv10679740, essv10679728, essv10679759, essv10679756, essv10679731, essv10679719, essv10679753, essv10679729, essv10679766, essv10679774
SamplesHG02386, NA21097, HG02652, HG03960, HG04060, NA21099, NA18486, HG03941, HG03521, HG03298, NA18504, HG03518, HG03944, NA19201, HG02069, HG02541, NA20905, HG03736, HG03978, HG01242, HG03830, HG02143, HG00867, HG03595, NA19317, HG02073, HG02545, HG02780, HG04029, HG03844, HG03160, HG03685, HG01122, HG03007, NA21119, HG03990, NA19184, HG02554, NA18516, HG03457, NA18915, HG03123, HG03085, HG03136, NA20859, NA18523, HG03354, HG03991, HG03934, NA19390, NA19147, HG03875, NA19331, HG02314, NA19679, NA19439, HG02188, HG03681, HG04140, NA20849, HG03849, HG02699, HG03351, NA18873, HG03611, HG02343, NA20908, HG03886
Known GenesGPR39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592508
Frequency
Sample Size2504
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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