A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990378



Internal ID12633669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16568781..16719151hg38UCSC Ensembl
Innerchr1:16895276..17045646hg19UCSC Ensembl
Innerchr1:16767863..16918233hg18UCSC Ensembl
Innerchr1:16640582..16790952hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38150371
hg19150371
hg18150371
hg17150371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34697
Supporting Variants
SamplesNA18570
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990378
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