A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10779410



Internal ID781226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178820157..178969265hg38UCSC Ensembl
Innerchr2:178820657..178968765hg38UCSC Ensembl
Outerchr2:178819157..178970265hg38UCSC Ensembl
chr2:179684884..179833992hg19UCSC Ensembl
Innerchr2:179685384..179833492hg19UCSC Ensembl
Outerchr2:179683884..179834992hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38149109
hg19149109
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593496
Supporting Variants
SamplesHG03391
Known GenesCCDC141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10779410
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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