A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046047



Internal ID5047863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66592062..66643006hg38UCSC Ensembl
Innerchr14:66592086..66642982hg38UCSC Ensembl
Outerchr14:66592038..66643030hg38UCSC Ensembl
chr14:67058780..67109724hg19UCSC Ensembl
Innerchr14:67058804..67109700hg19UCSC Ensembl
Outerchr14:67058756..67109748hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3850945
hg1950945
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634789
Supporting Variants
SamplesHG02895
Known GenesGPHN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046047
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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