A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10719628



Internal ID1863279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154165792..154259463hg38UCSC Ensembl
chr2:155022305..155115976hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3893672
hg1993672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592980
Supporting Variants
SamplesHG01762
Known GenesGALNT13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10719628
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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