A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517679



Internal ID548085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58228838..58230745hg38UCSC Ensembl
Innerchr2:58228842..58230742hg38UCSC Ensembl
Outerchr2:58228835..58230749hg38UCSC Ensembl
chr2:58455973..58457880hg19UCSC Ensembl
Innerchr2:58455977..58457877hg19UCSC Ensembl
Outerchr2:58455970..58457884hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590957
Supporting Variants
SamplesHG00238
Known GenesFANCL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517679
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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