A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676868



Internal ID2909955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121584713..121584987hg38UCSC Ensembl
chr10:123344227..123344501hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5491917, essv5874334, essv6183138, essv6352069, essv5733224, essv6392043, essv6231556, essv5793774, essv5456924, essv6399259, essv5785593, essv5908813, essv6252121
SamplesHG01072, HG01101, NA19355, HG00346, NA19390, HG01187, NA18620, HG01066, HG00236, NA19394, NA19403, NA18602, NA20317
Known GenesFGFR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676868
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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