A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644835



Internal ID7031586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55065902..55073249hg38UCSC Ensembl
Innerchr19:55065902..55073249hg38UCSC Ensembl
Outerchr19:55065791..55073347hg38UCSC Ensembl
chr19:55577270..55584617hg19UCSC Ensembl
Innerchr19:55577270..55584617hg19UCSC Ensembl
Outerchr19:55577159..55584715hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387348
hg197348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100465, essv16100464
SamplesHG01625, NA20804
Known GenesRDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644835
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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