A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638940



Internal ID6679037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69977307..70034749hg38UCSC Ensembl
chr16:70011210..70068652hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3857443
hg1957443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15503846, essv15503851, essv15503839, essv15503857, essv15503840, essv15503834, essv15503852, essv15503835, essv15503854, essv15503858, essv15503831, essv15503843, essv15503842, essv15503832, essv15503836, essv15503856, essv15503838, essv15503849, essv15503845, essv15503850, essv15503837, essv15503841, essv15503859, essv15503847, essv15503848, essv15503860, essv15503830, essv15503855, essv15503853, essv15503844, essv15503833
SamplesHG02360, NA18967, NA19089, HG02266, HG01945, HG01372, HG03594, HG03793, NA19731, HG01308, HG03394, NA18973, HG02819, HG03861, HG01669, NA19175, HG03919, HG02757, HG03730, HG00479, NA19740, HG03971, NA18974, HG01444, HG01980, HG04026, NA12272, HG02188, HG02771, NA21093, NA18984
Known GenesMIR1972-1, MIR1972-2, PDXDC2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638940
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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