A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10328913



Internal ID5983062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234006762..234007550hg38UCSC Ensembl
Innerchr1:234006762..234007550hg38UCSC Ensembl
Outerchr1:234006568..234007671hg38UCSC Ensembl
chr1:234142508..234143296hg19UCSC Ensembl
Innerchr1:234142508..234143296hg19UCSC Ensembl
Outerchr1:234142314..234143417hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589159
Supporting Variants
SamplesNA19390
Known GenesSLC35F3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10328913
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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