A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643747



Internal ID6683817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14568501..14568996hg38UCSC Ensembl
Innerchr19:14568502..14568995hg38UCSC Ensembl
Outerchr19:14568500..14568997hg38UCSC Ensembl
chr19:14679313..14679808hg19UCSC Ensembl
Innerchr19:14679314..14679807hg19UCSC Ensembl
Outerchr19:14679312..14679809hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15997467, essv15997464, essv15997465, essv15997468, essv15997466, essv15997463
SamplesHG00449, HG02155, NA18633, HG01806, HG00684, NA18555
Known GenesNDUFB7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643747
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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