A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv234e55



Internal ID18985465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76417007..76936433hg38UCSC Ensembl
chr7:76046324..76565750hg19UCSC Ensembl
chr7:75884260..76403686hg18UCSC Ensembl
chr7:75690975..76210401hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38519427
hg19519427
hg18519427
hg17519427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752181, esv34710, esv34358, esv35079, esv2752183, esv34344, esv2752180
SamplesNA18863, NA19152, NA18605, NA12005, BEC_122, NA18862, BEC_348
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, 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)dgv234e55
Frequency
Sample Size771
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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