A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12135655



Internal ID5182312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174582438..174584943hg38UCSC Ensembl
Innerchr5:174582488..174584893hg38UCSC Ensembl
Outerchr5:174582388..174584993hg38UCSC Ensembl
chr5:174009441..174011946hg19UCSC Ensembl
Innerchr5:174009491..174011896hg19UCSC Ensembl
Outerchr5:174009391..174011996hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382506
hg192506
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607634
Supporting Variants
SamplesNA18606
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12135655
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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