A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641567



Internal ID6681652
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15778335, essv15778334
SamplesNA20773, NA20806
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641567
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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