A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751847



Internal ID12638713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241576690..242072479hg38UCSC Ensembl
Innerchr2:242516105..243014630hg19UCSC Ensembl
Innerchr2:242164778..242663303hg18UCSC Ensembl
Innerchr2:242236095..242730382hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38495790
hg19498526
hg18498526
hg17494288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165e55
Supporting Variantsessv6989918, essv6984140, essv6984141
SamplesBEC_785
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)esv2751847
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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