A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752180



Internal ID12985732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76417007..76936433hg38UCSC Ensembl
Innerchr7:76046324..76565750hg19UCSC Ensembl
Innerchr7:75884260..76403686hg18UCSC Ensembl
Innerchr7:75690975..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 Variantsdgv234e55
Supporting Variantsessv6981071, essv6981072, essv6985467
SamplesBEC_348
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, 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)esv2752180
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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