A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15612894



Internal ID6571617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12116104..12168218hg38UCSC Ensembl
chr17:12019421..12071535hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3852115
hg1952115
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639963
Supporting Variants
SamplesNA20760
Known GenesMAP2K4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15612894
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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