A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642773



Internal ID7029542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63552577..63560443hg38UCSC Ensembl
Innerchr18:63552577..63560443hg38UCSC Ensembl
Outerchr18:63552545..63560468hg38UCSC Ensembl
chr18:61219810..61227676hg19UCSC Ensembl
Innerchr18:61219810..61227676hg19UCSC Ensembl
Outerchr18:61219778..61227701hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg387867
hg197867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15906707, essv15906704, essv15906706, essv15906711, essv15906710, essv15906709, essv15906708, essv15906705, essv15906703
SamplesHG04202, HG03009, NA21105, HG03908, HG03771, HG04189, HG03953, HG03694, HG03708
Known GenesSERPINB12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642773
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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