A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15855938



Internal ID4138275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42151273..42213819hg38UCSC Ensembl
Innerchr18:42151300..42213792hg38UCSC Ensembl
Outerchr18:42151246..42213846hg38UCSC Ensembl
chr18:39731237..39793784hg19UCSC Ensembl
Innerchr18:39731264..39793757hg19UCSC Ensembl
Outerchr18:39731210..39793811hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3862547
hg1962548
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642350
Supporting Variants
SamplesHG03750
Known GenesLINC00907
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15855938
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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