A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644858



Internal ID7031609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56184273..56214139hg38UCSC Ensembl
Innerchr19:56184323..56214089hg38UCSC Ensembl
Outerchr19:56184217..56214195hg38UCSC Ensembl
chr19:56695642..56725508hg19UCSC Ensembl
Innerchr19:56695692..56725458hg19UCSC Ensembl
Outerchr19:56695586..56725564hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3829867
hg1929867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100871
SamplesHG00473
Known GenesGALP, ZSCAN5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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