A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454840



Internal ID2456656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85644921..85651304hg38UCSC Ensembl
Innerchr6:85644921..85651304hg38UCSC Ensembl
Outerchr6:85644421..85651804hg38UCSC Ensembl
chr6:86354639..86361022hg19UCSC Ensembl
Innerchr6:86354639..86361022hg19UCSC Ensembl
Outerchr6:86354139..86361522hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg386384
hg196384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609818
Supporting Variants
SamplesNA18645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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