A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642787



Internal ID6682867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63892737..63896156hg38UCSC Ensembl
Innerchr18:63892770..63896123hg38UCSC Ensembl
Outerchr18:63892704..63896189hg38UCSC Ensembl
chr18:61559971..61563390hg19UCSC Ensembl
Innerchr18:61560004..61563357hg19UCSC Ensembl
Outerchr18:61559938..61563423hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg383420
hg193420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15906744
SamplesHG03760
Known GenesSERPINB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642787
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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