A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752137



Internal ID12985689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101294727..101492117hg38UCSC Ensembl
Innerchr7:100938008..101135398hg19UCSC Ensembl
Innerchr7:100724728..100922118hg18UCSC Ensembl
Innerchr7:100531443..100728833hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38197391
hg19197391
hg18197391
hg17197391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv236e55
Supporting Variantsessv6984650, essv6984649, essv6984648
SamplesSPC_162
Known GenesCOL26A1, RABL5
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)esv2752137
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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