A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10211723



Internal ID213539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185064271..185073474hg38UCSC Ensembl
Innerchr1:185064277..185073468hg38UCSC Ensembl
Outerchr1:185064265..185073480hg38UCSC Ensembl
chr1:185033403..185042606hg19UCSC Ensembl
Innerchr1:185033409..185042600hg19UCSC Ensembl
Outerchr1:185033397..185042612hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389204
hg199204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588134
Supporting Variants
SamplesNA19764
Known GenesRNF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10211723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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