A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10487694



Internal ID489510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46442293..46519933hg38UCSC Ensembl
chr2:46669432..46747072hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3877641
hg1977641
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590610
Supporting Variants
SamplesNA10847
Known GenesATP6V1E2, TMEM247
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10487694
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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