A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv232e55



Internal ID18985463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76374650..77109274hg38UCSC Ensembl
chr7:76003967..76738591hg19UCSC Ensembl
chr7:75841903..76576527hg18UCSC Ensembl
chr7:75648618..76383242hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38734625
hg19734625
hg18734625
hg17734625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34657, esv34688, esv2752178, esv34614, esv2752184
SamplesNA18859, BEC_555, NA19161, BEC_817, NA19131
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100132832, LOC100133091, POMZP3, SRCRB4D, UPK3B, ZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv232e55
Frequency
Sample Size771
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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