A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10343145



Internal ID1937082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238907838..238919345hg38UCSC Ensembl
Innerchr1:238907845..238919338hg38UCSC Ensembl
Outerchr1:238907831..238919352hg38UCSC Ensembl
chr1:239071138..239082645hg19UCSC Ensembl
Innerchr1:239071145..239082638hg19UCSC Ensembl
Outerchr1:239071131..239082652hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3811508
hg1911508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589265
Supporting Variants
SamplesHG01802
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10343145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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