A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1040191



Internal ID11856630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61924930..61925279hg38UCSC Ensembl
chr1:62390602..62390951hg19UCSC Ensembl
chr1:62163190..62163539hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38350
hg19350
hg18350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4185967
SamplesHuRef
Known GenesINADL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1040191
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer