A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv718e199



Internal ID22758491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91453724..91812744hg38UCSC Ensembl
chr2:91646104..92000770hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38359021
hg19354667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677493, esv2660919
SamplesHG01149, HG01073, HG00336, HG00578
Known GenesGGT8P, LOC654342
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv718e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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