A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34238



Internal ID12990277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:84649707..84962650hg38UCSC Ensembl
Innerchr7:84279023..84591966hg19UCSC Ensembl
Innerchr7:84116959..84429902hg18UCSC Ensembl
Innerchr7:83923674..84236617hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38312944
hg19312944
hg18312944
hg17312944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980398, essv6987784, essv6980397, essv6989173
SamplesNA10831
Known Genes
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)esv34238
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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