A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979792



Internal ID12980748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:24156918..24190281hg38UCSC Ensembl
Innerchr19:24339720..24373083hg19UCSC Ensembl
Innerchr19:24131560..24164923hg18UCSC Ensembl
Innerchr19:24131560..24164923hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3833364
hg1933364
hg1833364
hg1733364
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)essv6979792
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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