A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11000945



Internal ID1002761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46936636..46948496hg38UCSC Ensembl
Innerchr3:46936636..46948496hg38UCSC Ensembl
Outerchr3:46936136..46948996hg38UCSC Ensembl
chr3:46978126..46989986hg19UCSC Ensembl
Innerchr3:46978126..46989986hg19UCSC Ensembl
Outerchr3:46977626..46990486hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3811861
hg1911861
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596074
Supporting Variants
SamplesHG02153
Known GenesCCDC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11000945
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