A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586840



Internal ID6972012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94663460..94689566hg38UCSC Ensembl
Innerchr1:94663460..94689566hg38UCSC Ensembl
Outerchr1:94663231..94689790hg38UCSC Ensembl
chr1:95129016..95155122hg19UCSC Ensembl
Innerchr1:95129016..95155122hg19UCSC Ensembl
Outerchr1:95128787..95155346hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3826107
hg1926107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10023752, essv10023742, essv10023755, essv10023746, essv10023735, essv10023737, essv10023728, essv10023749, essv10023725, essv10023726, essv10023730, essv10023727, essv10023744, essv10023740, essv10023739, essv10023753, essv10023751, essv10023729, essv10023745, essv10023747, essv10023732, essv10023758, essv10023736, essv10023760, essv10023759, essv10023757, essv10023756, essv10023750, essv10023741, essv10023733, essv10023754, essv10023748, essv10023731, essv10023738, essv10023734, essv10023743
SamplesHG02614, NA19141, HG02583, HG03548, HG03241, NA19393, NA18878, NA19107, HG03135, NA18923, NA20317, HG03370, NA18916, NA18498, HG02111, HG02588, HG02545, HG03267, NA18908, NA19175, HG02582, HG02953, HG03081, HG01161, HG02577, NA19390, HG02799, NA19434, HG01396, HG03433, HG02464, NA19741, HG02771, HG03162, NA18505, NA19153
Known GenesLINC01057
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586840
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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