A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10652540



Internal ID4454045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123070732..123104136hg38UCSC Ensembl
Innerchr2:123070732..123104136hg38UCSC Ensembl
Outerchr2:123070232..123104636hg38UCSC Ensembl
chr2:123828308..123861712hg19UCSC Ensembl
Innerchr2:123828308..123861712hg19UCSC Ensembl
Outerchr2:123827808..123862212hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3833405
hg1933405
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592249
Supporting Variants
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10652540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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