A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274928



Internal ID1148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39694445..39694974hg38UCSC Ensembl
Outerchr17:39692338..39695379hg38UCSC Ensembl
Innerchr17:37850698..37851227hg19UCSC Ensembl
Outerchr17:37848591..37851632hg19UCSC Ensembl
Innerchr17:35104224..35104753hg18UCSC Ensembl
Outerchr17:35102117..35105158hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383042
hg193042
hg183042
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585694, essv2586024
Samples
Known GenesERBB2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274928
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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