A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641573



Internal ID6681658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2790197..2793638hg38UCSC Ensembl
Innerchr18:2790247..2793588hg38UCSC Ensembl
Outerchr18:2790147..2793688hg38UCSC Ensembl
chr18:2790195..2793636hg19UCSC Ensembl
Innerchr18:2790245..2793586hg19UCSC Ensembl
Outerchr18:2790145..2793686hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383442
hg193442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv596e214
Supporting Variantsessv15778348, essv15778347
SamplesHG02790, HG04106
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641573
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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