A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634626



Internal ID7021429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58574117..58575420hg38UCSC Ensembl
Innerchr14:58574167..58575370hg38UCSC Ensembl
Outerchr14:58573995..58575542hg38UCSC Ensembl
chr14:59040835..59042138hg19UCSC Ensembl
Innerchr14:59040885..59042088hg19UCSC Ensembl
Outerchr14:59040713..59042260hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15024914, essv15024901, essv15024904, essv15024916, essv15024913, essv15024902, essv15024915, essv15024900, essv15024896, essv15024898, essv15024897, essv15024907, essv15024908, essv15024905, essv15024912, essv15024919, essv15024899, essv15024909, essv15024917, essv15024911, essv15024903, essv15024906, essv15024910, essv15024918
SamplesNA19204, HG03455, HG03095, HG03436, NA19307, NA19457, HG02111, HG03460, NA18874, NA18868, HG03195, NA20412, HG03267, HG02322, HG01101, NA19225, HG03461, HG02274, NA19324, NA19143, HG03157, NA19474, HG03072, HG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634626
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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