A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15895643



Internal ID2500333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59534538..59535806hg38UCSC Ensembl
Innerchr18:59534578..59535766hg38UCSC Ensembl
Outerchr18:59534498..59535846hg38UCSC Ensembl
chr18:57201770..57203038hg19UCSC Ensembl
Innerchr18:57201810..57202998hg19UCSC Ensembl
Outerchr18:57201730..57203078hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381269
hg191269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642663
Supporting Variants
SamplesHG02220
Known GenesCCBE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15895643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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