A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792500



Internal ID18812979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7000545..7521949hg38UCSC Ensembl
Innerchr7:7040176..7561580hg19UCSC Ensembl
Innerchr7:7006701..7528105hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38521405
hg19521405
hg18521405
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891032
Supporting Variants
Samples
Known GenesC1GALT1, COL28A1, LOC100131257, LOC101927354
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=166
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792500
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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