A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1723038



Internal ID12539471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157576837..157577166hg38UCSC Ensembl
chr2:158433349..158433678hg19UCSC Ensembl
chr2:158141595..158141924hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3871222
SamplesHuRef
Known GenesACVR1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1723038
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