A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576890



Internal ID2578706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:145862268..145862831hg38UCSC Ensembl
Innerchr6:145862318..145862781hg38UCSC Ensembl
Outerchr6:145862218..145862881hg38UCSC Ensembl
chr6:146183404..146183967hg19UCSC Ensembl
Innerchr6:146183454..146183917hg19UCSC Ensembl
Outerchr6:146183354..146184017hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611141
Supporting Variants
SamplesNA20522
Known GenesLOC100507557
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576890
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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