A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4322889



Internal ID11258741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92701963..92701963hg38UCSC Ensembl
chr1:93167520..93167520hg19UCSC Ensembl
chr1:92940108..92940108hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1233172
Supporting Variants
SamplesHuRef
Known GenesEVI5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4322889
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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