A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981878



Internal ID12627382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37487846..37661846hg38UCSC Ensembl
Innerchr6:37455622..37629622hg19UCSC Ensembl
Innerchr6:37563600..37737600hg18UCSC Ensembl
Innerchr6:37563600..37737600hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38174001
hg19174001
hg18174001
hg17174001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752124
Supporting Variants
SamplesBEC_497
Known GenesCCDC167, MDGA1, MIR4462
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981878
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