A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10330335



Internal ID5943009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234548745..234549994hg38UCSC Ensembl
Innerchr1:234548754..234549986hg38UCSC Ensembl
Outerchr1:234548737..234550003hg38UCSC Ensembl
chr1:234684491..234685740hg19UCSC Ensembl
Innerchr1:234684500..234685732hg19UCSC Ensembl
Outerchr1:234684483..234685749hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589175
Supporting Variants
SamplesNA19351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10330335
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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