A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985012



Internal ID12631227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76374650..76936433hg38UCSC Ensembl
Innerchr7:76003967..76565750hg19UCSC Ensembl
Innerchr7:75841903..76403686hg18UCSC Ensembl
Innerchr7:75648618..76210401hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38561784
hg19561784
hg18561784
hg17561784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752178
Supporting Variants
SamplesBEC_817
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, SRCRB4D, UPK3B, ZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985012
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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