A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986369



Internal ID12628307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76585480..77109274hg38UCSC Ensembl
Innerchr7:76214797..76738591hg19UCSC Ensembl
Innerchr7:76052733..76576527hg18UCSC Ensembl
Innerchr7:75859448..76383242hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38523795
hg19523795
hg18523795
hg17523795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752184
Supporting Variants
SamplesBEC_555
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986369
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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