A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675100



Internal ID9941205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99685982..99687239hg38UCSC Ensembl
chr10:101445739..101446996hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5811452, essv5634413, essv6202309
SamplesNA19449, NA19713, NA19346
Known GenesENTPD7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675100
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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