A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6235549



Internal ID9900925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3029630..3033694hg38UCSC Ensembl
chr8:2887152..2891216hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg384065
hg194065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671391
Supporting Variants
SamplesNA20795
Known GenesCSMD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6235549
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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