A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635341



Internal ID7022140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92646611..92648620hg38UCSC Ensembl
Innerchr14:92646611..92648620hg38UCSC Ensembl
Outerchr14:92646396..92648853hg38UCSC Ensembl
chr14:93112956..93114965hg19UCSC Ensembl
Innerchr14:93112956..93114965hg19UCSC Ensembl
Outerchr14:93112741..93115198hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg382010
hg192010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15098093, essv15098094, essv15098092, essv15098097, essv15098090, essv15098095, essv15098088, essv15098096, essv15098085, essv15098086, essv15098091, essv15098089, essv15098087
SamplesHG03690, HG04229, HG01586, HG02661, NA20863, HG03947, HG03777, HG03780, HG02660, HG02790, NA21088, NA20849, NA21102
Known GenesRIN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635341
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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