A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665033



Internal ID9931138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66208512..66209480hg38UCSC Ensembl
chr8:67120747..67121715hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6032433, essv5717512, essv5983047, essv6070965, essv5733299, essv5633315, essv5820728, essv6264706, essv6316286, essv6318920, essv5823310, essv6220163, essv6481735, essv6228949, essv6254716, essv5585490, essv6424223, essv5885273, essv6540133, essv6567066, essv5688318, essv6357682, essv5672836, essv6537470, essv6285270, essv6061509, essv6067847, essv6121513, essv5689491, essv5961758, essv5902518
SamplesNA19700, NA12842, HG00249, NA07357, HG01351, HG00158, NA06984, HG00236, HG00262, HG00253, HG00108, NA20818, NA12777, NA12489, NA19657, HG00176, NA12003, NA20760, HG00320, HG01047, HG00152, HG00141, NA12716, HG00237, HG00116, NA12347, NA19779, HG00123, HG00112, NA20502, NA07000
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665033
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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