A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616929



Internal ID6657125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38598438..38603313hg38UCSC Ensembl
Innerchr8:38598438..38603313hg38UCSC Ensembl
Outerchr8:38597938..38603813hg38UCSC Ensembl
chr8:38455956..38460831hg19UCSC Ensembl
Innerchr8:38455956..38460831hg19UCSC Ensembl
Outerchr8:38455456..38461331hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg384876
hg194876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1391e214
Supporting Variantsessv13169157
SamplesHG02505
Known GenesRNF5P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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