A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985594



Internal ID12625553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6924059..7663769hg38UCSC Ensembl
Innerchr7:6963690..7703400hg19UCSC Ensembl
Innerchr7:6930215..7669925hg18UCSC Ensembl
Innerchr7:6736930..7476640hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38739711
hg19739711
hg18739711
hg17739711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752174
Supporting Variants
SamplesBEC_289
Known GenesC1GALT1, COL28A1, LOC100131257, LOC101927354, MIOS, RPA3, RPA3-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985594
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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