A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576887



Internal ID1177064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:145823350..145827731hg38UCSC Ensembl
Innerchr6:145823352..145827730hg38UCSC Ensembl
Outerchr6:145823349..145827733hg38UCSC Ensembl
chr6:146144486..146148867hg19UCSC Ensembl
Innerchr6:146144488..146148866hg19UCSC Ensembl
Outerchr6:146144485..146148869hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg384382
hg194382
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611140
Supporting Variants
SamplesHG01055
Known GenesLOC100507557
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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