A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751895



Internal ID12985447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48951210..49044278hg38UCSC Ensembl
Innerchr2:49178349..49271417hg19UCSC Ensembl
Innerchr2:49031853..49124921hg18UCSC Ensembl
Innerchr2:49090000..49183068hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3893069
hg1993069
hg1893069
hg1793069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984228, essv6989933, essv6984229, essv6984230
SamplesBEC_814
Known GenesFSHR
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)esv2751895
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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