A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634931



Internal ID7021731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74051108..74052535hg38UCSC Ensembl
Innerchr14:74051108..74052535hg38UCSC Ensembl
Outerchr14:74050723..74052878hg38UCSC Ensembl
chr14:74517811..74519238hg19UCSC Ensembl
Innerchr14:74517811..74519238hg19UCSC Ensembl
Outerchr14:74517426..74519581hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15060976, essv15061006, essv15060962, essv15061004, essv15061007, essv15060995, essv15061002, essv15060957, essv15060970, essv15060975, essv15060965, essv15060993, essv15061000, essv15060983, essv15060986, essv15060972, essv15060958, essv15061014, essv15061012, essv15060989, essv15060988, essv15061009, essv15061010, essv15060982, essv15060987, essv15060969, essv15060971, essv15060991, essv15060996, essv15060990, essv15060992, essv15060963, essv15060997, essv15060985, essv15060979, essv15060978, essv15061013, essv15060966, essv15060959, essv15060980, essv15060973, essv15060981, essv15060968, essv15060999, essv15060977, essv15060998, essv15061015, essv15060961, essv15061016, essv15060994, essv15060964, essv15061008, essv15061003, essv15060960, essv15061001, essv15061005, essv15060984, essv15060967, essv15061011, essv15060974
SamplesNA19394, HG00231, NA19397, NA18508, HG02702, NA19704, HG03057, HG01326, HG03115, HG02891, NA19795, HG02804, HG03455, HG03100, HG03126, HG03518, HG02312, NA19198, HG02854, HG03479, HG02111, HG03079, NA19922, HG02561, NA19372, NA19235, HG01950, HG02571, NA20412, NA18867, HG02716, HG02009, HG02334, NA19462, HG01879, NA19043, HG02144, HG03428, NA18871, HG03159, HG03476, NA18499, HG03397, NA19452, NA19625, HG03437, NA19144, HG02317, NA19248, NA19351, HG02676, NA19096, NA19711, NA19213, HG03376, HG02465, HG02851, HG02808, HG01509, HG03439
Known GenesCCDC176
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634931
Frequency
Sample Size2504
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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