A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12232820



Internal ID2234636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26368480..26444267hg38UCSC Ensembl
Innerchr6:26368630..26444117hg38UCSC Ensembl
Outerchr6:26368330..26444417hg38UCSC Ensembl
chr6:26368708..26444495hg19UCSC Ensembl
Innerchr6:26368858..26444345hg19UCSC Ensembl
Outerchr6:26368558..26444645hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3875788
hg1975788
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608402
Supporting Variants
SamplesHG02164
Known GenesBTN2A2, BTN2A3P, BTN3A1, BTN3A2, BTN3A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12232820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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