A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989340



Internal ID12974709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12546620..12573127hg38UCSC Ensembl
Innerchr16:12640477..12666984hg19UCSC Ensembl
Innerchr16:12547978..12574485hg18UCSC Ensembl
Innerchr16:12547978..12574485hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3826508
hg1926508
hg1826508
hg1726508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751546
Supporting Variants
SamplesBEC_535
Known GenesSNX29
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989340
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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