A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779198



Internal ID19180041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45719663..45725635hg38UCSC Ensembl
Innerchr7:45759262..45765234hg19UCSC Ensembl
Innerchr7:45725787..45731759hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg385973
hg195973
hg185973
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891103
Supporting Variants
Samples
Known GenesADCY1, SEPT7P2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779198
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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