A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15054063



Internal ID3283939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71632520..71639637hg38UCSC Ensembl
Innerchr14:71632546..71639611hg38UCSC Ensembl
Outerchr14:71632494..71639663hg38UCSC Ensembl
chr14:72099237..72106354hg19UCSC Ensembl
Innerchr14:72099263..72106328hg19UCSC Ensembl
Outerchr14:72099211..72106380hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg387118
hg197118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634880
Supporting Variants
SamplesHG02895
Known GenesSIPA1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15054063
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer