A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3593286



Internal ID11821896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62137647..62137647hg38UCSC Ensembl
chr1:62603319..62603319hg19UCSC Ensembl
chr1:62375907..62375907hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1091714
Supporting Variants
SamplesHuRef
Known GenesINADL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3593286
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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