A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981188



Internal ID12626278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16593776..16642600hg38UCSC Ensembl
Innerchr1:16920271..16969095hg19UCSC Ensembl
Innerchr1:16792858..16841682hg18UCSC Ensembl
Innerchr1:16665577..16714401hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3848825
hg1948825
hg1848825
hg1748825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750816
Supporting Variants
SamplesBEC_362
Known GenesCROCCP2, NBPF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981188
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