A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585798



Internal ID6626112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40086684..40087956hg38UCSC Ensembl
Innerchr1:40086688..40087952hg38UCSC Ensembl
Outerchr1:40086680..40087960hg38UCSC Ensembl
chr1:40552356..40553628hg19UCSC Ensembl
Innerchr1:40552360..40553624hg19UCSC Ensembl
Outerchr1:40552352..40553632hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9916595, essv9916592, essv9916598, essv9916574, essv9916580, essv9916599, essv9916578, essv9916577, essv9916601, essv9916596, essv9916594, essv9916586, essv9916584, essv9916575, essv9916573, essv9916589, essv9916582, essv9916562, essv9916602, essv9916576, essv9916566, essv9916558, essv9916561, essv9916593, essv9916597, essv9916559, essv9916581, essv9916591, essv9916567, essv9916569, essv9916585, essv9916588, essv9916572, essv9916587, essv9916579, essv9916568, essv9916563, essv9916603, essv9916560, essv9916583, essv9916565, essv9916564, essv9916600, essv9916590, essv9916570, essv9916571
SamplesNA18647, NA18595, HG01284, NA18530, NA18975, HG01491, HG00683, HG02274, NA20314, HG00557, HG01848, NA19084, HG00699, NA18949, HG01924, HG00556, HG01312, HG01796, HG00406, NA18635, HG03774, NA19066, NA20882, HG02028, HG04099, HG03917, HG02380, HG02058, NA19759, NA18572, NA18986, NA19002, HG02266, HG01494, NA18646, NA18614, HG03615, NA19064, NA18944, HG01947, HG00422, NA19756, HG01462, HG00704, NA19065, NA18629
Known GenesPPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585798
Frequency
Sample Size2504
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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