A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979756



Internal ID12980690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16230707..16284560hg38UCSC Ensembl
Innerchr7:16270332..16324185hg19UCSC Ensembl
Innerchr7:16236857..16290710hg18UCSC Ensembl
Innerchr7:16043572..16097425hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3853854
hg1953854
hg1853854
hg1753854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34298
Supporting Variants
SamplesNA18621
Known GenesISPD, ISPD-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979756
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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