A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6227743



Internal ID9681742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73746856..73748024hg38UCSC Ensembl
Outerchr12:73746699..73748177hg38UCSC Ensembl
Innerchr12:74140636..74141804hg19UCSC Ensembl
Outerchr12:74140479..74141957hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381479
hg191479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662455
Supporting Variants
SamplesNA19434
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6227743
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