A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635338



Internal ID6675451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92333836..92336196hg38UCSC Ensembl
Innerchr14:92333849..92336183hg38UCSC Ensembl
Outerchr14:92333823..92336209hg38UCSC Ensembl
chr14:92800180..92802540hg19UCSC Ensembl
Innerchr14:92800193..92802527hg19UCSC Ensembl
Outerchr14:92800167..92802553hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg382361
hg192361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15098042, essv15098044, essv15098041, essv15098039, essv15098045, essv15098040, essv15098043
SamplesNA18917, HG03342, NA19172, HG01094, HG02010, HG01396, HG03469
Known GenesSLC24A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635338
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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