A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641505



Internal ID7028279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:654166..655920hg38UCSC Ensembl
Innerchr18:654166..655920hg38UCSC Ensembl
Outerchr18:653881..656273hg38UCSC Ensembl
chr18:654166..655920hg19UCSC Ensembl
Innerchr18:654166..655920hg19UCSC Ensembl
Outerchr18:653881..656273hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381755
hg191755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15772483, essv15772491, essv15772470, essv15772498, essv15772497, essv15772496, essv15772479, essv15772495, essv15772480, essv15772471, essv15772492, essv15772486, essv15772478, essv15772473, essv15772469, essv15772484, essv15772485, essv15772494, essv15772475, essv15772493, essv15772499, essv15772482, essv15772487, essv15772472, essv15772477, essv15772490, essv15772481, essv15772476, essv15772488, essv15772474, essv15772489, essv15772468
SamplesNA19028, NA19141, NA19909, HG03052, HG03517, HG03115, HG02870, HG03518, NA19443, HG03436, NA19916, NA19023, NA18498, HG02420, NA19036, NA18520, HG03225, HG01879, HG02307, NA19449, HG03476, HG03202, NA19031, HG03391, NA19436, HG02941, NA19324, HG03304, NA19467, HG02107, HG03162, NA19316
Known GenesC18orf56
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641505
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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