A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062024



Internal ID1078597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129553917..129555216hg38UCSC Ensembl
Innerchr5:129553975..129555159hg38UCSC Ensembl
Outerchr5:129553860..129555274hg38UCSC Ensembl
chr5:128889610..128890909hg19UCSC Ensembl
Innerchr5:128889668..128890852hg19UCSC Ensembl
Outerchr5:128889553..128890967hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606759
Supporting Variants
SamplesHG00701
Known GenesADAMTS19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062024
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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