A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835460



Internal ID5837276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31097300..31097924hg38UCSC Ensembl
Innerchr18:31097304..31097920hg38UCSC Ensembl
Outerchr18:31097296..31097928hg38UCSC Ensembl
chr18:28677263..28677887hg19UCSC Ensembl
Innerchr18:28677267..28677883hg19UCSC Ensembl
Outerchr18:28677259..28677891hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642117
Supporting Variants
SamplesHG02582
Known GenesDSC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835460
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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