A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978410



Internal ID12981917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49960687..50034187hg38UCSC Ensembl
Innerchr8:50873247..50946747hg19UCSC Ensembl
Innerchr8:51035800..51109300hg18UCSC Ensembl
Innerchr8:51035800..51109300hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3873501
hg1973501
hg1873501
hg1773501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34788
Supporting Variants
SamplesNA19093
Known GenesSNTG1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978410
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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