A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12060975



Internal ID2058365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128529490..128530770hg38UCSC Ensembl
Innerchr5:128529494..128530766hg38UCSC Ensembl
Outerchr5:128529486..128530774hg38UCSC Ensembl
chr5:127865183..127866463hg19UCSC Ensembl
Innerchr5:127865187..127866459hg19UCSC Ensembl
Outerchr5:127865179..127866467hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606727
Supporting Variants
SamplesHG01878
Known GenesFBN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12060975
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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