A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989364



Internal ID12629553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241585172..242072479hg38UCSC Ensembl
Innerchr2:242524587..243014630hg19UCSC Ensembl
Innerchr2:242173260..242663303hg18UCSC Ensembl
Innerchr2:242244577..242730382hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38487308
hg19490044
hg18490044
hg17485806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751853
Supporting Variants
SamplesBEC_649
Known GenesATG4B, CXXC11, D2HGDH, DTYMK, GAL3ST2, ING5, NEU4, PDCD1, THAP4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989364
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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