A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454094



Internal ID2455910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84212497..84213204hg38UCSC Ensembl
Innerchr6:84212497..84213204hg38UCSC Ensembl
Outerchr6:84212277..84213528hg38UCSC Ensembl
chr6:84922215..84922922hg19UCSC Ensembl
Innerchr6:84922215..84922922hg19UCSC Ensembl
Outerchr6:84921995..84923246hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609791
Supporting Variants
SamplesHG00180
Known GenesKIAA1009
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454094
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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