A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12456493



Internal ID2458309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87688539..87689288hg38UCSC Ensembl
Innerchr6:87688557..87689270hg38UCSC Ensembl
Outerchr6:87688521..87689306hg38UCSC Ensembl
chr6:88398257..88399006hg19UCSC Ensembl
Innerchr6:88398275..88398988hg19UCSC Ensembl
Outerchr6:88398239..88399024hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609867
Supporting Variants
SamplesHG01942
Known GenesAKIRIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12456493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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