A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12581321



Internal ID998514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150757162..150758490hg38UCSC Ensembl
Innerchr6:150757193..150758459hg38UCSC Ensembl
Outerchr6:150757131..150758521hg38UCSC Ensembl
chr6:151078298..151079626hg19UCSC Ensembl
Innerchr6:151078329..151079595hg19UCSC Ensembl
Outerchr6:151078267..151079657hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611237
Supporting Variants
SamplesHG00623
Known GenesPLEKHG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12581321
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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