A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12149928



Internal ID5103209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178907586..178912149hg38UCSC Ensembl
Innerchr5:178907636..178912099hg38UCSC Ensembl
Outerchr5:178907485..178912250hg38UCSC Ensembl
chr5:178334587..178339150hg19UCSC Ensembl
Innerchr5:178334637..178339100hg19UCSC Ensembl
Outerchr5:178334486..178339251hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384564
hg194564
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607729
Supporting Variants
SamplesNA18555
Known GenesZFP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12149928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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