A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642595



Internal ID6682675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55439899..55440778hg38UCSC Ensembl
Innerchr18:55440067..55440728hg38UCSC Ensembl
Outerchr18:55439829..55440848hg38UCSC Ensembl
chr18:53107130..53108009hg19UCSC Ensembl
Innerchr18:53107298..53107959hg19UCSC Ensembl
Outerchr18:53107060..53108079hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15883493, essv15883490, essv15883497, essv15883491, essv15883492, essv15883495, essv15883494, essv15883496
SamplesHG03887, HG03685, HG03756, HG02694, HG04015, HG03789, HG03646, HG03890
Known GenesTCF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642595
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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