A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981953



Internal ID12627519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40038135..40093535hg38UCSC Ensembl
Innerchr1:40503807..40559207hg19UCSC Ensembl
Innerchr1:40276394..40331794hg18UCSC Ensembl
Innerchr1:40172900..40228300hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3855401
hg1955401
hg1855401
hg1755401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750836
Supporting Variants
SamplesBEC_508
Known GenesCAP1, PPT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981953
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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