A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv697e214



Internal ID22756591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56511420..56593595hg38UCSC Ensembl
chr2:56738555..56820730hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3882176
hg1982176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590889, esv3590888
SamplesNA18550, HG02399, NA20334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv697e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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