A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643596



Internal ID7030355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7891650..7892915hg38UCSC Ensembl
Innerchr19:7891665..7892901hg38UCSC Ensembl
Outerchr19:7891636..7892930hg38UCSC Ensembl
chr19:7956535..7957800hg19UCSC Ensembl
Innerchr19:7956550..7957786hg19UCSC Ensembl
Outerchr19:7956521..7957815hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381266
hg191266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15987426, essv15987425
SamplesHG02002, NA20769
Known GenesLRRC8E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643596
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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