A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663220



Internal ID9929325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203701011..203701189hg38UCSC Ensembl
Outerchr1:203700974..203701239hg38UCSC Ensembl
Innerchr1:203670139..203670317hg19UCSC Ensembl
Outerchr1:203670102..203670367hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5994897, essv6143532, essv6158624, essv5783291, essv5445436, essv6585626
SamplesNA19819, HG00448, NA18582, NA18608, HG01174, NA18636
Known GenesATP2B4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663220
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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