A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv233e55



Internal ID20126712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76383349..77190972hg38UCSC Ensembl
chr7:76012666..76820289hg19UCSC Ensembl
chr7:75850602..76658225hg18UCSC Ensembl
chr7:75657317..76464940hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38807624
hg19807624
hg18807624
hg17807624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752179, esv2752182
SamplesBEC_704, BEC_631
Known GenesCCDC146, DTX2, 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)dgv233e55
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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