A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274938



Internal ID1158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237861037..237861218hg38UCSC Ensembl
Outerchr2:237858342..237861249hg38UCSC Ensembl
Innerchr2:238769680..238769861hg19UCSC Ensembl
Outerchr2:238766985..238769892hg19UCSC Ensembl
Innerchr2:238434419..238434600hg18UCSC Ensembl
Outerchr2:238431724..238434631hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382908
hg192908
hg182908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585517
Samples
Known GenesRAMP1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274938
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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