A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005375



Internal ID3070447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50688213..50718845hg38UCSC Ensembl
Innerchr14:50688235..50718823hg38UCSC Ensembl
Outerchr14:50688191..50718867hg38UCSC Ensembl
chr14:51154931..51185563hg19UCSC Ensembl
Innerchr14:51154953..51185541hg19UCSC Ensembl
Outerchr14:51154909..51185585hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3830633
hg1930633
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634488
Supporting Variants
SamplesHG02696
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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