A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634533



Internal ID7021336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53242532..53244156hg38UCSC Ensembl
Innerchr14:53242572..53244116hg38UCSC Ensembl
Outerchr14:53242492..53244196hg38UCSC Ensembl
chr14:53709250..53710874hg19UCSC Ensembl
Innerchr14:53709290..53710834hg19UCSC Ensembl
Outerchr14:53709210..53710914hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15014125, essv15014114, essv15014119, essv15014120, essv15014109, essv15014110, essv15014115, essv15014111, essv15014112, essv15014118, essv15014126, essv15014121, essv15014124, essv15014122, essv15014113, essv15014116, essv15014117, essv15014123
SamplesHG00766, NA18603, NA18571, NA18611, HG01813, HG02389, HG01046, HG02409, HG00419, HG02076, HG01810, HG00956, HG00463, HG02049, HG01866, HG01028, HG02116, HG00698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634533
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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