A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598233



Internal ID3278137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102493185..102494441hg38UCSC Ensembl
Innerchr2:102493185..102494441hg38UCSC Ensembl
Outerchr2:102492894..102494917hg38UCSC Ensembl
chr2:103109644..103110900hg19UCSC Ensembl
Innerchr2:103109644..103110900hg19UCSC Ensembl
Outerchr2:103109353..103111376hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381257
hg191257
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591793
Supporting Variants
SamplesHG02890
Known GenesSLC9A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598233
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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