A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751850



Internal ID12638716
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 StatusM
Merged Variantsdgv165e55
Supporting Variantsessv6988002, essv6981696, essv6981695
SamplesBEC_32
Known GenesATG4B, CXXC11, D2HGDH, DTYMK, GAL3ST2, ING5, NEU4, PDCD1, THAP4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751850
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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