A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4337516



Internal ID11620054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210653992..210653992hg38UCSC Ensembl
chr1:210827336..210827336hg19UCSC Ensembl
chr1:208893959..208893959hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381828
hg191828
hg181828
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1178918
Supporting Variants
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4337516
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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