A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11025931



Internal ID4804942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:60838799..60919769hg38UCSC Ensembl
Innerchr3:60838799..60919769hg38UCSC Ensembl
Outerchr3:60838299..60920269hg38UCSC Ensembl
chr3:60824463..60905441hg19UCSC Ensembl
Innerchr3:60824463..60905441hg19UCSC Ensembl
Outerchr3:60823963..60905941hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3880971
hg1980979
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596322
Supporting Variants
SamplesNA11992
Known GenesFHIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11025931
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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