A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608730



Internal ID6995654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38213516..38224431hg38UCSC Ensembl
chr6:38181292..38192207hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3810916
hg1910916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1178e214
Supporting Variantsessv12322520, essv12322522, essv12322523, essv12322521
SamplesHG01046, HG03833, NA12272, HG01672
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608730
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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