A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752173



Internal ID12985725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65365607..65778609hg38UCSC Ensembl
Innerchr7:64830520..65243596hg19UCSC Ensembl
Innerchr7:64467955..64881031hg18UCSC Ensembl
Innerchr7:64274670..64687746hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38413003
hg19413077
hg18413077
hg17413077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv229e55
Supporting Variantsessv6981510, essv6987975
SamplesBEC_287
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, ZNF92
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752173
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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