A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659681



Internal ID9579100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96250299..96250540hg38UCSC Ensembl
chr8:97262527..97262768hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5584645, essv5952819, essv5840523, essv5913701, essv5533144, essv5576516, essv6371225
SamplesNA11830, HG01070, HG01072, HG00328, HG00321, HG00336, HG00285
Known GenesMTERFD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659681
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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