A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34344



Internal ID12643697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..76936433hg38UCSC Ensembl
Innerchr7:76143625..76565750hg19UCSC Ensembl
Innerchr7:75981561..76403686hg18UCSC Ensembl
Innerchr7:75788276..76210401hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38422126
hg19422126
hg18422126
hg17422126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv234e55
Supporting Variantsessv6980946, essv6985443, essv6980945
SamplesNA19152
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34344
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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