A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441753



Internal ID15288706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7639166..7640764hg38UCSC Ensembl
Innerchr19:7639764..7640166hg38UCSC Ensembl
Outerchr19:7638166..7641764hg38UCSC Ensembl
chr19:7704052..7705650hg19UCSC Ensembl
Innerchr19:7704650..7705052hg19UCSC Ensembl
Outerchr19:7703052..7706650hg19UCSC Ensembl
chr19:7610052..7611650hg18UCSC Ensembl
Innerchr19:7611052..7610650hg18UCSC Ensembl
Outerchr19:7609052..7612650hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691683
SamplesNA19240
Known GenesSTXBP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441753
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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