A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634183



Internal ID7020987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:40725441..40990835hg38UCSC Ensembl
Innerchr14:40725450..40990826hg38UCSC Ensembl
Outerchr14:40725432..40990844hg38UCSC Ensembl
chr14:41194646..41460040hg19UCSC Ensembl
Innerchr14:41194655..41460031hg19UCSC Ensembl
Outerchr14:41194637..41460049hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38265395
hg19265395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14984584
SamplesNA18641
Known GenesLOC644919
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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