A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986884



Internal ID12633671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16593799..16642599hg38UCSC Ensembl
Innerchr1:16920294..16969094hg19UCSC Ensembl
Innerchr1:16792881..16841681hg18UCSC Ensembl
Innerchr1:16665600..16714400hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3848801
hg1948801
hg1848801
hg1748801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34697
Supporting Variants
SamplesNA18570
Known GenesCROCCP2, NBPF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986884
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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