A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643314



Internal ID6683394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79704447..79712227hg38UCSC Ensembl
chr18:77464447..77472227hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg387781
hg197781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15958580, essv15958581, essv15958586, essv15958583, essv15958584, essv15958585, essv15958582
SamplesHG02661, HG00596, HG00404, HG00266, HG00179, HG00629, NA12272
Known GenesCTDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643314
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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