A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978673



Internal ID12632248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142135084..142375789hg38UCSC Ensembl
Innerchr3:141853926..142094631hg19UCSC Ensembl
Innerchr3:143336616..143577321hg18UCSC Ensembl
Innerchr3:143336624..143577329hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38240706
hg19240706
hg18240706
hg17240706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34483
Supporting Variants
SamplesNA12144
Known GenesGK5, TFDP2, XRN1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978673
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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