A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987465



Internal ID12630799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241899657..242169657hg38UCSC Ensembl
Innerchr1:242062959..242332959hg19UCSC Ensembl
Innerchr1:240129582..240399582hg18UCSC Ensembl
Innerchr1:238389000..238659000hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38270001
hg19270001
hg18270001
hg17270001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750831
Supporting Variants
SamplesBEC_74
Known GenesMAP1LC3C, PLD5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987465
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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