A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611159



Internal ID6998070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146888485..146899743hg38UCSC Ensembl
chr6:147209621..147220879hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3811259
hg1911259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1228e214
Supporting Variantsessv12577416, essv12577417
SamplesNA18943, NA18987
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611159
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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