A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673605



Internal ID13392152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55272656..55272706hg38UCSC Ensembl
Innerchr18:55272678..55272681hg38UCSC Ensembl
Outerchr18:55272628..55272734hg38UCSC Ensembl
chr18:52939887..52939937hg19UCSC Ensembl
Innerchr18:52939909..52939912hg19UCSC Ensembl
Outerchr18:52939859..52939965hg19UCSC Ensembl
chr18:51090885..51090935hg18UCSC Ensembl
Innerchr18:51090910..51090907hg18UCSC Ensembl
Outerchr18:51090857..51090963hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445278
Supporting Variants
SamplesNA12892
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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