A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12581320



Internal ID2583136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150598977..150602526hg38UCSC Ensembl
Innerchr6:150598984..150602519hg38UCSC Ensembl
Outerchr6:150598970..150602533hg38UCSC Ensembl
chr6:150920113..150923662hg19UCSC Ensembl
Innerchr6:150920120..150923655hg19UCSC Ensembl
Outerchr6:150920106..150923669hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611236
Supporting Variants
SamplesHG01871
Known GenesPLEKHG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12581320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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