A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10803610



Internal ID3368351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191130447..191133807hg38UCSC Ensembl
chr2:191995173..191998533hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383361
hg193361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593761
Supporting Variants
SamplesHG03019
Known GenesSTAT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10803610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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