A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10414784



Internal ID6626953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14345099..14481144hg38UCSC Ensembl
chr2:14485223..14621268hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38136046
hg19136046
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589883
Supporting Variants
SamplesNA20790
Known GenesLINC00276
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10414784
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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