A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616754



Internal ID7003640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29037736..29038736hg38UCSC Ensembl
Innerchr8:29037738..29038735hg38UCSC Ensembl
Outerchr8:29037735..29038738hg38UCSC Ensembl
chr8:28895253..28896253hg19UCSC Ensembl
Innerchr8:28895255..28896252hg19UCSC Ensembl
Outerchr8:28895252..28896255hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153458, essv13153456, essv13153457, essv13153459, essv13153455, essv13153454
SamplesHG02394, HG01597, HG00421, HG01846, HG00759, HG00593
Known GenesHMBOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616754
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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