A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12483345



Internal ID5752015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:101567752..101579001hg38UCSC Ensembl
Innerchr6:101567787..101578966hg38UCSC Ensembl
Outerchr6:101567717..101579036hg38UCSC Ensembl
chr6:102015627..102026876hg19UCSC Ensembl
Innerchr6:102015662..102026841hg19UCSC Ensembl
Outerchr6:102015592..102026911hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3811250
hg1911250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610166
Supporting Variants
SamplesNA19121
Known GenesGRIK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12483345
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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