A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15042379



Internal ID5044195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64957705..64959017hg38UCSC Ensembl
Innerchr14:64957747..64958975hg38UCSC Ensembl
Outerchr14:64957663..64959059hg38UCSC Ensembl
chr14:65424423..65425735hg19UCSC Ensembl
Innerchr14:65424465..65425693hg19UCSC Ensembl
Outerchr14:65424381..65425777hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634758
Supporting Variants
SamplesHG04100
Known GenesCHURC1-FNTB, RAB15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15042379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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