A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15888945



Internal ID5890761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56967135..56967635hg38UCSC Ensembl
Innerchr18:56967151..56967620hg38UCSC Ensembl
Outerchr18:56967120..56967651hg38UCSC Ensembl
chr18:54634366..54634866hg19UCSC Ensembl
Innerchr18:54634382..54634851hg19UCSC Ensembl
Outerchr18:54634351..54634882hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642621
Supporting Variants
SamplesNA18504
Known GenesWDR7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15888945
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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