A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373738



Internal ID375554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247548774..247569695hg38UCSC Ensembl
Innerchr1:247548774..247569695hg38UCSC Ensembl
Outerchr1:247548274..247570195hg38UCSC Ensembl
chr1:247712076..247732997hg19UCSC Ensembl
Innerchr1:247712076..247732997hg19UCSC Ensembl
Outerchr1:247711576..247733497hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3820922
hg1920922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589519
Supporting Variants
SamplesNA19239
Known GenesGCSAML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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