A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669986



Internal ID9589405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:74607797..74614780hg38UCSC Ensembl
chr10:76367555..76374538hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg386984
hg196984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6444837, essv5592129, essv6356475
SamplesNA12748, HG01082, NA18541
Known GenesADK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669986
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer