A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590562



Internal ID6977891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44498926..44575936hg38UCSC Ensembl
chr2:44726065..44803075hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3877011
hg1977011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10483693
SamplesHG03947
Known GenesCAMKMT, MIR548AD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590562
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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