A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752139



Internal ID12985691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10758865..10914592hg38UCSC Ensembl
Innerchr7:10798492..10954219hg19UCSC Ensembl
Innerchr7:10765017..10920744hg18UCSC Ensembl
Innerchr7:10571732..10727459hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38155728
hg19155728
hg18155728
hg17155728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984841, essv6984840, essv6990030
SamplesSPC_183
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)esv2752139
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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