A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752135



Internal ID12985687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101289049..101492284hg38UCSC Ensembl
Innerchr7:100932330..101135565hg19UCSC Ensembl
Innerchr7:100719050..100922285hg18UCSC Ensembl
Innerchr7:100525765..100729000hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38203236
hg19203236
hg18203236
hg17203236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv236e55
Supporting Variantsessv6988387, essv6985544, essv6981322, essv6985545, essv6981321
SamplesBEC_385
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)esv2752135
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer