A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10153223



Internal ID367963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156702192..156702947hg38UCSC Ensembl
Innerchr1:156702193..156702946hg38UCSC Ensembl
Outerchr1:156702191..156702948hg38UCSC Ensembl
chr1:156671984..156672739hg19UCSC Ensembl
Innerchr1:156671985..156672738hg19UCSC Ensembl
Outerchr1:156671983..156672740hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587640
Supporting Variants
SamplesHG00105
Known GenesCRABP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10153223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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