A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12118699



Internal ID6958508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161185709..161197389hg38UCSC Ensembl
Innerchr5:161186209..161196889hg38UCSC Ensembl
Outerchr5:161184709..161198389hg38UCSC Ensembl
chr5:160612716..160624396hg19UCSC Ensembl
Innerchr5:160613216..160623896hg19UCSC Ensembl
Outerchr5:160611716..160625396hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3811681
hg1911681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607399
Supporting Variants
SamplesNA21137
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12118699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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