A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988077



Internal ID12632721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142657056..142768033hg38UCSC Ensembl
Innerchr7:142364553..142476036hg19UCSC Ensembl
Innerchr7:142044116..142155613hg18UCSC Ensembl
Innerchr7:141850831..141962328hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38110978
hg19111484
hg18111498
hg17111498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34617
Supporting Variants
SamplesNA12812
Known GenesMTRNR2L6, PRSS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988077
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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