A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6197750



Internal ID9175153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117456902..117458628hg38UCSC Ensembl
Outerchr11:117456865..117458678hg38UCSC Ensembl
Innerchr11:117327618..117329344hg19UCSC Ensembl
Outerchr11:117327581..117329394hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677023
Supporting Variants
SamplesHG01441
Known GenesDSCAML1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6197750
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