A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604573



Internal ID6991601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31204851..31209190hg38UCSC Ensembl
Innerchr5:31204858..31209184hg38UCSC Ensembl
Outerchr5:31204845..31209197hg38UCSC Ensembl
chr5:31204958..31209297hg19UCSC Ensembl
Innerchr5:31204965..31209291hg19UCSC Ensembl
Outerchr5:31204952..31209304hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384340
hg194340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854827
SamplesHG02881
Known GenesCDH6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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