A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4051518



Internal ID11363670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61871413..61871413hg38UCSC Ensembl
chr1:62337085..62337085hg19UCSC Ensembl
chr1:62109673..62109673hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1631480
Supporting Variants
SamplesHuRef
Known GenesINADL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4051518
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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