A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752171



Internal ID12985723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65263183..65778609hg38UCSC Ensembl
Innerchr7:64728078..65243596hg19UCSC Ensembl
Innerchr7:64365513..64881031hg18UCSC Ensembl
Innerchr7:64172228..64687746hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38515427
hg19515519
hg18515519
hg17515519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv229e55
Supporting Variantsessv6981611, essv6987987, essv6981612, essv6987986
SamplesBEC_304
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, ZNF92
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)esv2752171
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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