A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4155546



Internal ID11091398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112847923..112847923hg38UCSC Ensembl
chr1:113390545..113390545hg19UCSC Ensembl
chr1:113192068..113192068hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38320
hg19320
hg18320
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1681392
Supporting Variants
SamplesHuRef
Known GenesLOC100996702
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4155546
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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