A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983715



Internal ID12975815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109150268..109212096hg38UCSC Ensembl
Innerchr1:109692890..109754718hg19UCSC Ensembl
Innerchr1:109494413..109556241hg18UCSC Ensembl
Innerchr1:109404932..109466760hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3861829
hg1961829
hg1861829
hg1761829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750798
Supporting Variants
SamplesBEC_617
Known GenesKIAA1324
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983715
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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