A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5627461



Internal ID8760276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7549668..7564969hg38UCSC Ensembl
Outerchr12:7549631..7565019hg38UCSC Ensembl
Innerchr12:7702264..7717565hg19UCSC Ensembl
Outerchr12:7702227..7717615hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3815389
hg1915389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665516
Supporting Variants
SamplesHG00151
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5627461
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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