A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10652771



Internal ID4454457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123254970..123375451hg38UCSC Ensembl
chr2:124012546..124133027hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38120482
hg19120482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592258
Supporting Variants
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10652771
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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