A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12327729



Internal ID2329545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41595290..41596678hg38UCSC Ensembl
Innerchr6:41595290..41596678hg38UCSC Ensembl
Outerchr6:41595168..41596852hg38UCSC Ensembl
chr6:41563028..41564416hg19UCSC Ensembl
Innerchr6:41563028..41564416hg19UCSC Ensembl
Outerchr6:41562906..41564590hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608791
Supporting Variants
SamplesNA19025
Known GenesFOXP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12327729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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