A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587614



Internal ID6975036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155020849..155021924hg38UCSC Ensembl
Innerchr1:155020849..155021924hg38UCSC Ensembl
Outerchr1:155020597..155022326hg38UCSC Ensembl
chr1:154993325..154994400hg19UCSC Ensembl
Innerchr1:154993325..154994400hg19UCSC Ensembl
Outerchr1:154993073..154994802hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10152130, essv10152138, essv10152128, essv10152139, essv10152136, essv10152141, essv10152144, essv10152143, essv10152146, essv10152126, essv10152147, essv10152131, essv10152140, essv10152148, essv10152134, essv10152145, essv10152127, essv10152142, essv10152132, essv10152133, essv10152135, essv10152129, essv10152137
SamplesNA19141, NA19399, HG02798, NA18486, HG03280, NA19443, NA19374, HG02549, NA19023, HG02981, NA19038, NA19372, HG03363, HG01049, NA19461, NA19035, HG02667, NA19834, NA19712, HG03097, HG02053, NA19185, HG03303
Known GenesDCST2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587614
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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