A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422494



Internal ID7906591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76286900..76984449hg38UCSC Ensembl
Innerchr7:75916217..76613766hg19UCSC Ensembl
Innerchr7:75754153..76451702hg18UCSC Ensembl
Innerchr7:75560868..76258417hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38697550
hg19697550
hg18697550
hg17697550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161538
SamplesND04903
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, HSPB1, LOC100133091, POMZP3, SRCRB4D, SRRM3, UPK3B, YWHAG, ZP3
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422494
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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