A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752161



Internal ID12985713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57208126..57860274hg38UCSC Ensembl
Innerchr7:57275833..57919980hg19UCSC Ensembl
Innerchr7:57279775..57923922hg18UCSC Ensembl
Innerchr7:57086490..57730637hg17UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38652149
hg19644148
hg18644148
hg17644148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982963, essv6988607, essv6982965, essv6982964
SamplesBEC_529
Known GenesMIR3147, ZNF716
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)esv2752161
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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