A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3694579



Internal ID12067291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210654011..210654011hg38UCSC Ensembl
chr1:210827355..210827355hg19UCSC Ensembl
chr1:208893978..208893978hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1079015
Supporting Variants
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3694579
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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