A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274888



Internal ID1108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172691152..172691296hg38UCSC Ensembl
Outerchr2:172685428..172694340hg38UCSC Ensembl
Innerchr2:173555880..173556024hg19UCSC Ensembl
Outerchr2:173550156..173559068hg19UCSC Ensembl
Innerchr2:173264126..173264270hg18UCSC Ensembl
Outerchr2:173258402..173267314hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg388913
hg198913
hg188913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585380
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274888
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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