A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12189373



Internal ID2191189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11059195..11087756hg38UCSC Ensembl
Innerchr6:11059245..11087706hg38UCSC Ensembl
Outerchr6:11059145..11087806hg38UCSC Ensembl
chr6:11059428..11087989hg19UCSC Ensembl
Innerchr6:11059478..11087939hg19UCSC Ensembl
Outerchr6:11059378..11088039hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3828562
hg1928562
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608089
Supporting Variants
SamplesNA18542
Known GenesELOVL2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12189373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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