A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752179



Internal ID12639045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76383349..77190972hg38UCSC Ensembl
Innerchr7:76012666..76820289hg19UCSC Ensembl
Innerchr7:75850602..76658225hg18UCSC Ensembl
Innerchr7:75657317..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 Variantsdgv233e55
Supporting Variantsessv6989956, essv6989428
SamplesBEC_704
Known GenesCCDC146, DTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100132832, LOC100133091, POMZP3, SRCRB4D, UPK3B, ZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752179
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer