A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12000171



Internal ID1008584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102079244..102149237hg38UCSC Ensembl
Innerchr5:102079244..102149237hg38UCSC Ensembl
Outerchr5:102078744..102149737hg38UCSC Ensembl
chr5:101414948..101484941hg19UCSC Ensembl
Innerchr5:101414948..101484941hg19UCSC Ensembl
Outerchr5:101414448..101485441hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3869994
hg1969994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606034
Supporting Variants
SamplesHG00631
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12000171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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