A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585482



Internal ID6973005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23409667..23411287hg38UCSC Ensembl
Innerchr1:23409667..23411287hg38UCSC Ensembl
Outerchr1:23409244..23411686hg38UCSC Ensembl
chr1:23736160..23737780hg19UCSC Ensembl
Innerchr1:23736160..23737780hg19UCSC Ensembl
Outerchr1:23735737..23738179hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9889468, essv9889403, essv9889456, essv9889449, essv9889416, essv9889411, essv9889462, essv9889457, essv9889465, essv9889438, essv9889430, essv9889428, essv9889461, essv9889448, essv9889445, essv9889480, essv9889420, essv9889447, essv9889466, essv9889405, essv9889443, essv9889446, essv9889425, essv9889472, essv9889453, essv9889471, essv9889451, essv9889419, essv9889410, essv9889478, essv9889408, essv9889460, essv9889417, essv9889402, essv9889477, essv9889441, essv9889454, essv9889458, essv9889464, essv9889401, essv9889413, essv9889467, essv9889463, essv9889444, essv9889439, essv9889473, essv9889435, essv9889436, essv9889459, essv9889423, essv9889414, essv9889470, essv9889415, essv9889476, essv9889421, essv9889404, essv9889412, essv9889437, essv9889440, essv9889432, essv9889422, essv9889426, essv9889469, essv9889450, essv9889406, essv9889400, essv9889409, essv9889433, essv9889429, essv9889418, essv9889431, essv9889442, essv9889452, essv9889427, essv9889455, essv9889434, essv9889474, essv9889475, essv9889479, essv9889407, essv9889424
SamplesHG00442, NA18592, HG01031, HG04229, HG00766, NA18999, NA18641, HG01806, HG00699, HG00452, NA18625, HG00449, NA18940, NA18550, HG03796, HG02407, NA18635, HG02521, NA18547, HG04182, NA18582, HG01840, HG00451, HG00683, HG01813, NA18560, NA19075, NA18544, NA19082, NA19070, HG00557, HG02025, NA18956, NA18644, HG00701, HG00657, NA18991, HG02076, HG02084, HG00584, NA18637, HG02165, HG01852, HG00619, HG00708, NA18573, HG00844, HG00684, HG03643, HG00613, HG04152, NA18634, NA19012, NA18646, HG01811, NA18546, HG00407, HG01812, NA18632, HG02064, NA18992, HG00631, HG00607, NA18629, HG02188, HG01862, HG00614, HG00478, NA18631, HG00409, HG01028, HG02396, HG02113, HG04171, HG00595, HG00628, HG00759, NA18740, NA18612, NA19074, HG00593
Known GenesTCEA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585482
Frequency
Sample Size2504
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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