A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15894083



Internal ID1147220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58508845..58523832hg38UCSC Ensembl
Innerchr18:58508845..58523832hg38UCSC Ensembl
Outerchr18:58508345..58524332hg38UCSC Ensembl
chr18:56176077..56191064hg19UCSC Ensembl
Innerchr18:56176077..56191064hg19UCSC Ensembl
Outerchr18:56175577..56191564hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3814988
hg1914988
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642649
Supporting Variants
SamplesHG00982
Known GenesALPK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15894083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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