A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983831



Internal ID12629322
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752182
Supporting Variants
SamplesBEC_631
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983831
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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