A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10438536



Internal ID1925886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29311089..29460776hg38UCSC Ensembl
Innerchr2:29311125..29460741hg38UCSC Ensembl
Outerchr2:29311054..29460812hg38UCSC Ensembl
chr2:29533955..29683642hg19UCSC Ensembl
Innerchr2:29533991..29683607hg19UCSC Ensembl
Outerchr2:29533920..29683678hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38149688
hg19149688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590172
Supporting Variants
SamplesHG01798
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10438536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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