A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890636



Internal ID19184720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1304555..1353203hg38UCSC Ensembl
Outerchr1:1304555..1353203hg38UCSC Ensembl
Innerchr1:1239935..1288583hg19UCSC Ensembl
Outerchr1:1239935..1288583hg19UCSC Ensembl
Innerchr1:1229798..1278446hg18UCSC Ensembl
Outerchr1:1229798..1278446hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3848649
hg1948649
hg1848649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780752
Samples
Known GenesACAP3, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, MXRA8, PUSL1, TAS1R3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890636
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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