A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618721



Internal ID7005603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125353671..125355489hg38UCSC Ensembl
Innerchr8:125353740..125355420hg38UCSC Ensembl
Outerchr8:125353602..125355558hg38UCSC Ensembl
chr8:126365913..126367731hg19UCSC Ensembl
Innerchr8:126365982..126367662hg19UCSC Ensembl
Outerchr8:126365844..126367800hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381819
hg191819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13316175
SamplesHG00589
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618721
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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