A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15778334



Internal ID5780150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2667972..2671088hg38UCSC Ensembl
Innerchr18:2667996..2671064hg38UCSC Ensembl
Outerchr18:2667948..2671112hg38UCSC Ensembl
chr18:2667971..2671087hg19UCSC Ensembl
Innerchr18:2667995..2671063hg19UCSC Ensembl
Outerchr18:2667947..2671111hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383117
hg193117
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641567
Supporting Variants
SamplesNA20773
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15778334
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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