A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588096



Internal ID6975520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182114627..182118448hg38UCSC Ensembl
Innerchr1:182114639..182118436hg38UCSC Ensembl
Outerchr1:182114615..182118460hg38UCSC Ensembl
chr1:182083762..182087583hg19UCSC Ensembl
Innerchr1:182083774..182087571hg19UCSC Ensembl
Outerchr1:182083750..182087595hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383822
hg193822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10207572, essv10207566, essv10207574, essv10207570, essv10207569, essv10207571, essv10207565, essv10207573, essv10207568, essv10207567
SamplesHG00148, HG00106, HG00188, HG01088, NA12829, HG01988, HG01253, NA20849, NA20758, HG01468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588096
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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