A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642634



Internal ID6682714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57676209..57680833hg38UCSC Ensembl
Innerchr18:57676231..57680811hg38UCSC Ensembl
Outerchr18:57676187..57680855hg38UCSC Ensembl
chr18:55343441..55348065hg19UCSC Ensembl
Innerchr18:55343463..55348043hg19UCSC Ensembl
Outerchr18:55343419..55348087hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg384625
hg194625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15892929
SamplesNA20864
Known GenesATP8B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642634
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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