A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15103567



Internal ID5105383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96385068..96403803hg38UCSC Ensembl
chr14:96851405..96870140hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3818736
hg1918736
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635423
Supporting Variants
SamplesHG03900
Known GenesAK7, GSKIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15103567
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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