A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986946



Internal ID12980767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:24156958..24321158hg38UCSC Ensembl
Innerchr19:24339760..24503960hg19UCSC Ensembl
Innerchr19:24131600..24295800hg18UCSC Ensembl
Innerchr19:24131600..24295800hg17UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg38164201
hg19164201
hg18164201
hg17164201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34504
Supporting Variants
SamplesNA18632
Known GenesHAVCR1P1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986946
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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