A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983714



Internal ID12975814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109146692..109200500hg38UCSC Ensembl
Innerchr1:109689314..109743122hg19UCSC Ensembl
Innerchr1:109490837..109544645hg18UCSC Ensembl
Innerchr1:109401356..109455164hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3853809
hg1953809
hg1853809
hg1753809
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983714
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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