A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618149



Internal ID7005032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98271558..98278987hg38UCSC Ensembl
Innerchr8:98271599..98278947hg38UCSC Ensembl
Outerchr8:98271518..98279028hg38UCSC Ensembl
chr8:99283786..99291215hg19UCSC Ensembl
Innerchr8:99283827..99291175hg19UCSC Ensembl
Outerchr8:99283746..99291256hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg387430
hg197430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13267340, essv13267341
SamplesHG00245, NA12272
Known GenesNIPAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618149
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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