A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12504653



Internal ID3468635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111902992..111908719hg38UCSC Ensembl
Innerchr6:111903492..111908219hg38UCSC Ensembl
Outerchr6:111901992..111909719hg38UCSC Ensembl
chr6:112224195..112229922hg19UCSC Ensembl
Innerchr6:112224695..112229422hg19UCSC Ensembl
Outerchr6:112223195..112230922hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385728
hg195728
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610383
Supporting Variants
SamplesHG03086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12504653
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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