A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590144



Internal ID6630431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27676095..27676967hg38UCSC Ensembl
Innerchr2:27676095..27676967hg38UCSC Ensembl
Outerchr2:27676005..27677096hg38UCSC Ensembl
chr2:27898962..27899834hg19UCSC Ensembl
Innerchr2:27898962..27899834hg19UCSC Ensembl
Outerchr2:27898872..27899963hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10436738
SamplesNA19457
Known GenesSLC4A1AP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590144
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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