A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6237337



Internal ID9214740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30619496..30625634hg38UCSC Ensembl
chr8:30477013..30483151hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386139
hg196139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678843
Supporting Variants
SamplesNA19440
Known GenesGTF2E2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6237337
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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