A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11257n54



Internal ID22779152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31032771..31082927hg38UCSC Ensembl
chr7:31072386..31122542hg19UCSC Ensembl
chr7:31038911..31089067hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3850157
hg1950157
hg1850157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606523, nsv606522
SamplesHGDP00850, 1780854340_A
Known GenesADCYAP1R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11257n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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