A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984095



Internal ID12630995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45353817..45442591hg38UCSC Ensembl
Innerchr1:45819489..45908263hg19UCSC Ensembl
Innerchr1:45592076..45680850hg18UCSC Ensembl
Innerchr1:45488582..45577356hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3888775
hg1988775
hg1888775
hg1788775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750837
Supporting Variants
SamplesBEC_774
Known GenesTESK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984095
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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