A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984089



Internal ID12630952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101352284..101492284hg38UCSC Ensembl
Innerchr7:100995565..101135565hg19UCSC Ensembl
Innerchr7:100782285..100922285hg18UCSC Ensembl
Innerchr7:100589000..100729000hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38140001
hg19140001
hg18140001
hg17140001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752134
Supporting Variants
SamplesBEC_768
Known GenesCOL26A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984089
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