A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12184866



Internal ID5744130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:9219014..9220475hg38UCSC Ensembl
Innerchr6:9219020..9220469hg38UCSC Ensembl
Outerchr6:9219008..9220481hg38UCSC Ensembl
chr6:9219247..9220708hg19UCSC Ensembl
Innerchr6:9219253..9220702hg19UCSC Ensembl
Outerchr6:9219241..9220714hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381462
hg191462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608047
Supporting Variants
SamplesNA19117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12184866
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