A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675237



Internal ID9941342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39386735..39529709hg38UCSC Ensembl
chr8:39244254..39387228hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38142975
hg19142975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1282e199
Supporting Variantsessv5770118, essv5730216, essv6382041
SamplesHG00336, HG00418, NA19474
Known GenesADAM3A, ADAM5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675237
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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