A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585712



Internal ID6626027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34883656..34884595hg38UCSC Ensembl
Innerchr1:34883657..34884595hg38UCSC Ensembl
Outerchr1:34883656..34884596hg38UCSC Ensembl
chr1:35349257..35350196hg19UCSC Ensembl
Innerchr1:35349258..35350196hg19UCSC Ensembl
Outerchr1:35349257..35350197hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9899594, essv9899589, essv9899591, essv9899598, essv9899585, essv9899587, essv9899600, essv9899590, essv9899588, essv9899605, essv9899601, essv9899599, essv9899593, essv9899586, essv9899602, essv9899604, essv9899603, essv9899592, essv9899595, essv9899596, essv9899597
SamplesHG01985, HG02583, HG02973, HG01052, HG03300, HG03190, HG03095, HG03485, HG03224, NA20291, HG02505, HG02562, HG03114, HG03169, NA19982, HG03085, HG02309, HG02330, HG03351, NA19096, NA19429
Known GenesDLGAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585712
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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